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1 | Table S6: Variants overlapping with enhancer elements. Positions are shown in hg38. | |||||||||||||||||||||||||
2 | rsID | Chr | Position | Enhancer ID | Enhancer type | Enhancer start location | Enhancer end location | P-value | Collapsed trait | Study Disease/Trait | ||||||||||||||||
3 | rs12061931 | chr1 | 3779792 | EH38D4333212 | dELS,CTCF-bound | 3779613 | 3779811 | 6.00E-08 | OC | Ovarian cancer | ||||||||||||||||
4 | rs143623984 | chr1 | 101301117 | EH38D2204327 | dELS | 101300977 | 101301315 | 9.00E-06 | OC | Ovarian cancer | ||||||||||||||||
5 | rs1763604 | chr1 | 16013277 | EH38D4346634 | dELS,CTCF-bound | 16013273 | 16013496 | 7.00E-09 | Morbidity pleio | Breast cancer, ovarian cancer or prostate cancer (pleiotropy) | ||||||||||||||||
6 | rs186507655 | chr1 | 1351675 | EH38D4328650 | dELS | 1351662 | 1352006 | 5.00E-10 | Morbidity pleio | Cancer (pleiotropy) | ||||||||||||||||
7 | rs3754464 | chr1 | 159009146 | EH38D2228820 | pELS | 159008798 | 159009147 | 2.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
8 | rs3820282 | chr1 | 22141722 | EH38D2137313 | pELS | 22141531 | 22141863 | 2.00E-08 | EOC | Epithelial ovarian cancer | ||||||||||||||||
9 | rs5780234 | chr1 | 204379514 | EH38D2265364 | pELS | 204379220 | 204379567 | 6.00E-06 | Prog free surv w/trt | Progression free survival in epithelial ovarian cancer treated with carboplatin and paclitaxel | ||||||||||||||||
10 | rs77548871 | chr1 | 155016057 | EH38D2225189 | pELS,CTCF-bound | 155015955 | 155016114 | 5.00E-09 | Morbidity pleio | Breast cancer, ovarian cancer or prostate cancer (pleiotropy) | ||||||||||||||||
11 | rs9442387 | chr1 | 1175206 | EH38D2115887 | pELS | 1175187 | 1175440 | 8.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
12 | rs2615880 | chr10 | 115937294 | EH38D2395398 | dELS | 115937265 | 115937580 | 8.00E-06 | OC | Ovarian cancer | ||||||||||||||||
13 | rs8187707 | chr10 | 99850776 | EH38D4543906 | dELS | 99850754 | 99850969 | 5.00E-06 | Trt response | Carboplatin disposition in epthelial ovarian cancer | ||||||||||||||||
14 | rs870274 | chr10 | 122120548 | EH38D2400961 | dELS,CTCF-bound | 122120395 | 122120632 | 7.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
15 | rs118151305 | chr11 | 66324772 | EH38D4614798 | dELS | 66324708 | 66325053 | 6.00E-09 | Morbidity pleio | Breast cancer, ovarian cancer or prostate cancer (pleiotropy) | ||||||||||||||||
16 | rs141131642 | chr11 | 10778732 | EH38D4582909 | dELS,CTCF-bound | 10778576 | 10778906 | 5.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
17 | rs2237896 | chr11 | 2837210 | EH38D4577192 | dELS,CTCF-bound | 2837114 | 2837461 | 5.00E-09 | Morbidity pleio | Cancer | ||||||||||||||||
18 | rs67812265 | chr11 | 57776189 | EH38D4605660 | dELS | 57776072 | 57776229 | 6.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
19 | rs72932523 | chr11 | 69138652 | EH38D4618730 | dELS,CTCF-bound | 69138329 | 69138674 | 1.00E-09 | Morbidity pleio | Breast cancer, ovarian cancer or prostate cancer (pleiotropy) | ||||||||||||||||
20 | rs78540526 | chr11 | 69516650 | EH38D2464446 | dELS | 69516544 | 69516889 | 1.00E-15 | Morbidity pleio | Cancer | ||||||||||||||||
21 | rs7937840 | chr11 | 62126500 | EH38D4609013 | dELS | 62126353 | 62126577 | 2.00E-09 | Morbidity pleio | Breast cancer, ovarian cancer or prostate cancer (pleiotropy) | ||||||||||||||||
22 | rs11175194 | chr12 | 63871057 | EH38D2569224 | pELS,CTCF-bound | 63870922 | 63871146 | 1.00E-07 | EOC | Epithelial ovarian cancer | ||||||||||||||||
23 | rs3184504 | chr12 | 111446804 | EH38D4729157 | dELS | 111446721 | 111446984 | 1.00E-06 | Morbidity pleio | Cancer (pleiotropy) | ||||||||||||||||
24 | rs7953249 | chr12 | 120965921 | EH38D4736493 | dELS,CTCF-bound | 120965684 | 120965970 | 8.00E-07 | HGSOC | High-grade serous ovarian cancer | ||||||||||||||||
25 | rs56404467 | chr13 | 32265853 | EH38D2638499 | dELS | 32265771 | 32266114 | 1.00E-07 | Morbidity pleio | Cancer | ||||||||||||||||
26 | rs78375425 | chr13 | 39329007 | EH38D2643996 | dELS | 39328854 | 39329025 | 3.00E-06 | OC | Ovarian cancer | ||||||||||||||||
27 | rs17211649 | chr14 | 20698124 | EH38D2697839 | dELS,CTCF-bound | 20697788 | 20698128 | 2.00E-06 | Trt response | Paclitaxel disposition in epithelial ovarian cancer | ||||||||||||||||
28 | rs2277509 | chr14 | 91283251 | EH38D4838462 | dELS | 91282958 | 91283306 | 2.00E-11 | Morbidity pleio | Breast cancer or ovarian cancer (pleiotropy) | ||||||||||||||||
29 | rs4313770 | chr15 | 38490292 | EH38D4865775 | dELS | 38490248 | 38490589 | 6.00E-06 | Trt response | Carboplatin disposition in epthelial ovarian cancer | ||||||||||||||||
30 | rs8060270 | chr16 | 73418955 | EH38D2882116 | pELS | 73418766 | 73419108 | 3.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
31 | rs11263763 | chr17 | 37743574 | EH38D5007720 | pELS,CTCF-bound | 37743514 | 37743844 | 2.00E-08 | Morbidity pleio | Cancer | ||||||||||||||||
32 | rs117529210 | chr17 | 30841062 | EH38D5002529 | dELS | 30840796 | 30841141 | 5.00E-10 | Obesity pleio | Leg fat ratio or ovarian cancer (pleiotropy) | ||||||||||||||||
33 | rs12601991 | chr17 | 37741642 | EH38D5007714 | dELS | 37741463 | 37741665 | 1.00E-09 | Morbidity pleio | Cancer | ||||||||||||||||
34 | rs139505845 | chr17 | 57289728 | EH38D5025342 | dELS | 57289720 | 57289972 | 6.00E-06 | OC | Ovarian cancer (MTAG) | ||||||||||||||||
35 | rs199512 | chr17 | 46779986 | EH38D5017671 | dELS | 46779785 | 46780023 | 3.00E-15 | Morbidity pleio | Ovarian cancer or critical COVID-19 (pleiotropy) | ||||||||||||||||
36 | rs244353 | chr17 | 55117408 | EH38D5024032 | dELS | 55117205 | 55117547 | 1.00E-31 | Morbidity pleio | Breast cancer or ovarian cancer (pleiotropy) | ||||||||||||||||
37 | rs591939 | chr17 | 42546057 | EH38D5012971 | pELS | 42545860 | 42546141 | 3.00E-08 | Obesity pleio | Waist-to-hip ratio or ovarian cancer (pleiotropy) | ||||||||||||||||
38 | rs70602 | chr17 | 46782349 | EH38D5017675 | dELS,CTCF-bound | 46782257 | 46782562 | 6.00E-14 | Morbidity pleio | Ovarian cancer or hospitalized COVID-19 (pleiotropy) | ||||||||||||||||
39 | rs7209484 | chr17 | 48065680 | EH38D5018942 | pELS | 48065439 | 48065752 | 1.00E-10 | Obesity pleio | Arm fat ratio or ovarian cancer (pleiotropy) | ||||||||||||||||
40 | rs75637630 | chr17 | 30841060 | EH38D5002529 | dELS | 30840796 | 30841141 | 7.00E-11 | Obesity pleio | Trunk fat ratio or ovarian cancer (pleiotropy) | ||||||||||||||||
41 | rs9302891 | chr17 | 69228706 | EH38D5035407 | dELS,CTCF-bound | 69228643 | 69228954 | 7.00E-06 | Trt response | Paclitaxel disposition in epithelial ovarian cancer | ||||||||||||||||
42 | rs470903 | chr18 | 77003313 | EH38D3027353 | dELS,CTCF-bound | 77003133 | 77003359 | 3.00E-06 | Trt response | Paclitaxel disposition in epithelial ovarian cancer | ||||||||||||||||
43 | rs1469713 | chr19 | 19417997 | EH38D5119877 | dELS | 19417691 | 19418038 | 1.00E-10 | Morbidity pleio | Breast cancer, ovarian cancer or prostate cancer (pleiotropy) | ||||||||||||||||
44 | rs17513613 | chr19 | 29795915 | EH38D3053388 | dELS | 29795778 | 29796115 | 1.00E-09 | Obesity pleio | Body mass index or ovarian cancer (pleiotropy) | ||||||||||||||||
45 | rs2363956 | chr19 | 17283315 | EH38D5116678 | pELS,CTCF-bound | 17283062 | 17283323 | 1.00E-07 | OC | Ovarian cancer | ||||||||||||||||
46 | rs34357515 | chr19 | 3197622 | EH38D5100061 | dELS | 3197441 | 3197677 | 1.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
47 | rs112420119 | chr2 | 44805022 | EH38D3117248 | dELS,CTCF-bound | 44804886 | 44805117 | 4.00E-06 | Prog free surv w/trt | Progression free survival in serous epithelial ovarian cancer treated with carboplatin and paclitaxel | ||||||||||||||||
48 | rs2072590 | chr2 | 176177905 | EH38D5258659 | pELS,CTCF-bound | 176177810 | 176178047 | 5.00E-11 | OC | Ovarian cancer | ||||||||||||||||
49 | rs2594950 | chr2 | 176643894 | EH38D3213284 | dELS,CTCF-bound | 176643739 | 176644020 | 7.00E-06 | MOC | Mucinous epithelial ovarian cancer | ||||||||||||||||
50 | rs3769823 | chr2 | 201258272 | EH38D5270452 | pELS,CTCF-bound | 201258267 | 201258615 | 1.00E-16 | Morbidity pleio | Breast cancer or ovarian cancer (pleiotropy) | ||||||||||||||||
51 | rs4848599 | chr2 | 120481784 | EH38D5229053 | dELS | 120481525 | 120481839 | 9.00E-09 | Morbidity pleio | Cancer | ||||||||||||||||
52 | rs537364753 | chr2 | 184453308 | EH38D3219207 | dELS,CTCF-bound | 184453065 | 184453329 | 6.00E-06 | OC | Ovarian cancer | ||||||||||||||||
53 | rs6748345 | chr2 | 67269079 | EH38D5198997 | dELS | 67268839 | 67269135 | 2.00E-08 | Obesity pleio | Waist-to-hip ratio or ovarian cancer (pleiotropy) | ||||||||||||||||
54 | rs6755777 | chr2 | 176178498 | EH38D3212858 | pELS,CTCF-bound | 176178433 | 176178582 | 5.00E-13 | HGSOC | High-grade serous ovarian cancer | ||||||||||||||||
55 | rs67654717 | chr2 | 15170390 | EH38D3091057 | dELS | 15170365 | 15170522 | 9.00E-06 | Prog free surv | Progression free survival in epithelial ovarian cancer | ||||||||||||||||
56 | rs711830 | chr2 | 176172583 | EH38D5258649 | dELS,CTCF-bound | 176172350 | 176172666 | 5.00E-08 | BOT | Serous borderline ovarian cancer | ||||||||||||||||
57 | rs72831838 | chr2 | 113258824 | EH38D5225311 | dELS | 113258701 | 113259029 | 8.00E-07 | MOC | Mucinous ovarian carcinoma | ||||||||||||||||
58 | rs7559097 | chr2 | 38517625 | EH38D5182203 | pELS | 38517388 | 38517705 | 6.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
59 | rs895412 | chr2 | 113216387 | EH38D5225261 | dELS,CTCF-bound | 113216266 | 113216417 | 1.00E-07 | HGSOC | High-grade serous epithelial ovarian cancer | ||||||||||||||||
60 | rs6062344 | chr20 | 64064671 | EH38D5354508 | pELS | 64064404 | 64064736 | 5.00E-10 | Obesity pleio | Waist-to-hip ratio or ovarian cancer (pleiotropy) | ||||||||||||||||
61 | rs2070368 | chr21 | 34708100 | EH38D5365763 | dELS,CTCF-bound | 34707928 | 34708277 | 1.00E-08 | NMOC | Non-mucinous epithelial ovarian cancer | ||||||||||||||||
62 | rs135573 | chr22 | 46131359 | EH38D5412024 | dELS,CTCF-bound | 46131139 | 46131476 | 3.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
63 | rs5993791 | chr22 | 19681497 | EH38D5382290 | dELS,CTCF-bound | 19681368 | 19681711 | 8.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
64 | rs11130471 | chr3 | 55376983 | EH38D5456713 | dELS | 55376778 | 55377125 | 9.00E-06 | Trt response | Carboplatin disposition in epthelial ovarian cancer | ||||||||||||||||
65 | rs13097957 | chr3 | 156638368 | EH38D3505467 | dELS | 156638277 | 156638563 | 1.00E-09 | Obesity pleio | Body mass index or ovarian cancer (pleiotropy) | ||||||||||||||||
66 | rs1728807 | chr3 | 11007643 | EH38D5425620 | dELS,CTCF-bound | 11007593 | 11007900 | 9.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
67 | rs1875108 | chr3 | 55592887 | EH38D5456870 | dELS | 55592648 | 55592940 | 5.00E-06 | Prog free surv | Progression free survival in serous epithelial ovarian cancer | ||||||||||||||||
68 | rs7631664 | chr3 | 4709568 | EH38D5421499 | dELS | 4709410 | 4709668 | 9.00E-10 | Overall surv | Overall survival in ovarian cancer | ||||||||||||||||
69 | rs9841147 | chr3 | 197379538 | EH38D3537923 | dELS,CTCF-bound | 197379345 | 197379591 | 3.00E-06 | Prog free surv | Progression free survival in serous epithelial ovarian cancer | ||||||||||||||||
70 | rs9870207 | chr3 | 190807727 | EH38D5525764 | dELS,CTCF-bound | 190807700 | 190808049 | 3.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
71 | rs9878602 | chr3 | 71486187 | EH38D5465393 | dELS | 71485958 | 71486262 | 4.00E-08 | Morbidity pleio | Breast cancer or ovarian cancer (pleiotropy) | ||||||||||||||||
72 | rs10009522 | chr4 | 153242242 | EH38D3643462 | dELS,CTCF-bound | 153242234 | 153242574 | 9.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
73 | rs12233670 | chr4 | 38785595 | EH38D5557464 | dELS,CTCF-bound | 38785431 | 38785764 | 8.00E-12 | Morbidity pleio | Breast cancer or ovarian cancer (pleiotropy) | ||||||||||||||||
74 | rs7671665 | chr4 | 119026033 | EH38D3619844 | pELS | 119025928 | 119026274 | 4.00E-08 | Obesity pleio | Waist-to-hip ratio adjusted for body mass index or ovarian cancer (pleiotropy) | ||||||||||||||||
75 | rs80192073 | chr4 | 40121779 | EH38D3569064 | dELS,CTCF-bound | 40121536 | 40121879 | 1.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
76 | rs148570926 | chr5 | 139690696 | EH38D5691509 | dELS,CTCF-bound | 139690451 | 139690800 | 3.00E-06 | OC | Ovarian cancer | ||||||||||||||||
77 | rs1862626 | chr5 | 56737113 | EH38D5649792 | dELS | 56736919 | 56737264 | 4.00E-12 | Morbidity pleio | Cancer (pleiotropy) | ||||||||||||||||
78 | rs60982503 | chr5 | 180485036 | EH38D3801525 | dELS,CTCF-bound | 180484928 | 180485122 | 5.00E-06 | OC | Ovarian cancer | ||||||||||||||||
79 | rs7725218 | chr5 | 1282299 | EH38D3669797 | dELS | 1282182 | 1282402 | 2.00E-10 | Morbidity pleio | Cancer (pleiotropy) | ||||||||||||||||
80 | rs830888 | chr5 | 52727882 | EH38D3701384 | dELS,CTCF-bound | 52727658 | 52728003 | 1.00E-08 | Morbidity pleio | Cancer | ||||||||||||||||
81 | rs303051 | chr6 | 10403963 | EH38D3811908 | pELS,CTCF-bound | 10403626 | 10403975 | 6.00E-06 | OC | Ovarian cancer | ||||||||||||||||
82 | rs74375290 | chr6 | 31129248 | EH38D5743011 | dELS,CTCF-bound | 31129223 | 31129427 | 6.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
83 | rs10260419 | chr7 | 11524758 | EH38D5831153 | dELS | 11524532 | 11524872 | 1.00E-07 | EOC | Epithelial ovarian cancer | ||||||||||||||||
84 | rs2525548 | chr7 | 99955544 | EH38D5878904 | dELS | 99955252 | 99955598 | 3.00E-09 | Morbidity pleio | Cancer | ||||||||||||||||
85 | rs78503057 | chr7 | 23357410 | EH38D5836959 | dELS,CTCF-bound | 23357320 | 23357666 | 1.00E-06 | Prog free surv w/trt | Progression free survival in serous epithelial ovarian cancer treated with carboplatin and paclitaxel | ||||||||||||||||
86 | rs12546957 | chr8 | 127619425 | EH38D4147481 | dELS | 127619420 | 127619731 | 3.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
87 | rs12682374 | chr8 | 127398703 | EH38D5988275 | pELS | 127398393 | 127398741 | 9.00E-29 | Morbidity pleio | Cancer | ||||||||||||||||
88 | rs150293538 | chr8 | 76408119 | EH38D5961710 | pELS | 76408010 | 76408195 | 2.00E-09 | BOT | Low-grade serous and serous borderline ovarian cancer | ||||||||||||||||
89 | rs202280 | chr8 | 81290982 | EH38D5963979 | dELS,CTCF-bound | 81290877 | 81291065 | 6.00E-06 | Overall surv w/trt | Overall survival in serous epithelial ovarian cancer treated with paclitaxel and cisplatin | ||||||||||||||||
90 | rs7017073 | chr8 | 128192016 | EH38D5989217 | dELS | 128191948 | 128192276 | 4.00E-14 | Morbidity pleio | Breast cancer or ovarian cancer (pleiotropy) | ||||||||||||||||
91 | rs9886651 | chr8 | 127805637 | EH38D5988734 | dELS | 127805521 | 127805775 | 2.00E-09 | EOC | Epithelial ovarian cancer | ||||||||||||||||
92 | rs11244061 | chr9 | 133278537 | EH38D6076271 | dELS,CTCF-bound | 133278511 | 133278661 | 1.00E-09 | Morbidity pleio | Ovarian cancer or hospitalized COVID-19 (pleiotropy) | ||||||||||||||||
93 | rs12551733 | chr9 | 16895580 | EH38D6015251 | dELS | 16895302 | 16895635 | 4.00E-16 | Obesity pleio | Leg fat ratio or ovarian cancer (pleiotropy) | ||||||||||||||||
94 | rs1413299 | chr9 | 98998959 | EH38D6048994 | dELS,CTCF-bound | 98998910 | 98999133 | 2.00E-08 | EOC | Epithelial ovarian cancer | ||||||||||||||||
95 | rs554833 | chr9 | 133271745 | EH38D4248338 | dELS | 133271669 | 133271930 | 1.00E-88 | Morbidity pleio | Ovarian cancer or COVID-19 infection (pleiotropy) | ||||||||||||||||
96 | rs56343119 | chr9 | 133370796 | EH38D6076427 | dELS | 133370761 | 133371102 | 1.00E-22 | Morbidity pleio | Ovarian cancer or COVID-19 infection (pleiotropy) | ||||||||||||||||
97 | rs6479436 | chr9 | 92905580 | EH38D6043480 | dELS,CTCF-bound | 92905380 | 92905597 | 7.00E-07 | Prog free surv w/trt | Progression free survival in serous epithelial ovarian cancer treated with carboplatin and paclitaxel | ||||||||||||||||
98 | rs79925169 | chr9 | 89469330 | EH38D6040458 | dELS,CTCF-bound | 89469053 | 89469337 | 5.00E-06 | EOC | Epithelial ovarian cancer | ||||||||||||||||
99 | rs17338346 | chrX | 31133020 | EH38D4272730 | dELS | 31132791 | 31133128 | 1.00E-05 | Prog free surv w/trt | Progression free survival in epithelial ovarian cancer treated with carboplatin and paclitaxel | ||||||||||||||||
100 | rs972834 | chrX | 23276803 | EH38D4269084 | dELS | 23276523 | 23276872 | 7.00E-06 | OC | Ovarian cancer (MTAG) |