GWAS-related eQTLs across different cancer types
We identified 337,131 eQTLs that overlap with GWAS linkage disequilibrium (LD) regions (r² ≥ 0.5).
|
Cancer type
|
eQTL type
|
tagSNP
|
Gene position (hg19)
|
p-value
|
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA | cis | rs2275426 | 1 | rs10789487 | chr1:46420221 | MUTYH | chr1:45794915-45806142:- | 0.12 | 4.8 | 1.8E-6 | Body mass index |
| BRCA | cis | rs10792320 | 1 | rs10792320 | chr11:61746291 | BEST1 | chr11:61717356-61731939:+ | 0.16 | 4.46 | 9.17E-6 | Phospholipid levels (plasma) |
| BRCA | cis | rs9921222 | 1 | rs10794639 | chr16:377367 | DECR2 | chr16:451858-462486:+ | 0.11 | 3.94 | 8.61E-5 | Bone mineral density (spine);Bone mineral density |
| BRCA | cis | rs734999 | 1 | rs10797432 | chr1:2501338 | LOC115110 | chr1:2481359-2488450:- | -0.08 | -3.72 | 0.00021 | Ulcerative colitis |
| BRCA | cis | rs734999 | 1 | rs10797432 | chr1:2501338 | MMEL1 | chr1:2522081-2564481:- | -0.14 | -4.51 | 7.23E-6 | Ulcerative colitis |
| BRCA | cis | rs4654899 | 1 | rs10799685 | chr1:21465930 | SH2D5 | chr1:21046225-21059330:- | -0.12 | -3.37 | 0.000767 | Superior frontal gyrus grey matter volume |
| BRCA | cis | rs4654899 | 1 | rs10799686 | chr1:21486445 | SH2D5 | chr1:21046225-21059330:- | -0.13 | -3.41 | 0.000683 | Superior frontal gyrus grey matter volume |
| BRCA | cis | rs6547741 | 1 | rs1080060 | chr2:27768808 | KRTCAP3 | chr2:27665263-27667163:+ | -0.13 | -3.98 | 7.37E-5 | Oral cavity cancer |
| BRCA | cis | rs9782955 | 1 | rs10803116 | chr1:236031654 | GNG4 | chr1:235710987-235814054:- | 0.18 | 4.64 | 3.96E-6 | Systemic lupus erythematosus |
| BRCA | cis | rs13016963 | 1 | rs10804111 | chr2:202145612 | ALS2CR12 | chr2:202153148-202222101:- | -0.27 | -7.24 | 8.32E-13 | Melanoma;Esophageal squamous cell carcinoma |
| BRCA | cis | rs10935120 | 1 | rs10804632 | chr3:134294501 | ANAPC13 | chr3:134196547-134204865:- | 0.38 | 12.53 | 1.03E-33 | Height |
| BRCA | cis | rs10935120 | 1 | rs10804632 | chr3:134294501 | CEP63 | chr3:134204575-134293852:+ | 0.14 | 3.92 | 9.43E-5 | Height |
| BRCA | cis | rs12216499 | 1 | rs10806701 | chr6:159385223 | RSPH3 | chr6:159398268-159421198:- | 0.25 | 4.46 | 9.16E-6 | Bladder cancer (smoking interaction) |
| BRCA | cis | rs11190604 | 1 | rs1080698 | chr10:102295114 | SEC31B | chr10:102246403-102289636:- | -0.28 | -10.15 | 3.58E-23 | Palmitoleic acid (16:1n-7) plasma levels |
| BRCA | cis | rs12196860 | 1 | rs10807508 | chr6:55950812 | COL21A1 | chr6:55921389-56258892:- | -0.37 | -6.84 | 1.34E-11 | Psychosis (atypical) |