Table 3.
Trait | SNP | Position (hg19) | Reported genes | CpG | beta | P-value | Associated gene | Location | CpG island | Distance to SNP (kb) |
---|---|---|---|---|---|---|---|---|---|---|
Melanoma | rs401681 | chr5:1322087 | TERT, CLPTM1L | cg06550200 | 0.783 | 2.6 × 10−50 | CLPTM1L | Body | – | −3.5 |
Cutaneous nevi | rs738322 | chr22:38569006 | PLA2G6 | cg25457927 | 0.851 | 1.7 × 10−49 | – | – | Shelf | −26.4 |
Melanoma | rs45430 | chr21:42746081 | MX2 | cg22778903 | −0.711 | 1.9 × 10−42 | MX2 | 5′UTR | – | 4.4 |
Melanoma | rs6001027 | chr22:38545619 | PLA2G6 | cg25457927 | 0.843 | 1.3 × 10−38 | – | – | Shelf | −49.8 |
Cutaneous nevi and Melanoma | rs2284063 | chr22:38544298 | PLA2G6 | cg25457927 | 0.834 | 3.5 × 10−38 | – | – | Shelf | −51.1 |
Melanoma | rs7412746 | chr1:150860471 | ARNT, SETDB1, LASS2, ANXA9, MCL1, CTSK | cg15448220 | 0.662 | 1.4 × 10−32 | SETDB1 | TSS1500 | Shore | −37.4 |
Melanoma (2) | rs258322 | chr16:89755903 | MC1R | cg05714116 | −0.728 | 5.5 × 10−14 | CDK10 | TSS1500 | Shore | 3.3 |
Cutaneous nevi | rs3768080 | chr1:236179869 | NID1 | cg18765906 | −0.374 | 6.4 × 10−14 | NID1 | Body | – | 4.5 |
Melanoma | rs4785763 | chr16:90066936 | MC1R | cg08547343 | −0.346 | 1.0 × 10−9 | CENPBD1;AFG3L1 | 5′UTR; TSS200 | Island | 28.1 |
Melanoma | rs910873 | chr20:33171772 | CDC91L1 | cg01901788 | −0.441 | 1.8 × 10−6 | MAP1LC3A | TSS1500 | Shore | 25.9 |
Melanoma | rs13097028 | chr3:169464942 | ACTRT3 | cg27020690 | −0.289 | 2.0 × 10−6 | – | – | Island | −17.4 |
Melanoma | rs13016963 | chr2:202162811 | CASP8 | cg24599065 | −0.230 | 2.1 × 10−6 | CASP10 | 3′UTR | – | 69.0 |
Melanoma | rs228437 | chr6:134898456 | ASIP | cg24504307 | −0.355 | 9.2 × 10−6 | – | – | – | −64.7 |
Melanoma | rs3219090 | chr1:226564691 | PARP1 | cg18764804 | 0.240 | 6.2 × 10−4 | PARP1 | TSS1500 | Shore | −32.0 |
Melanoma | rs1031925 | chr3:51379274 | DOCK3 | cg09456445 | −0.315 | 8.5 × 10−4 | DOCK3 | 3′UTR | Shore | −41.1 |
Melanoma | rs1722784 | chr1:150961869 | ANXA9 | cg07479786 | 0.261 | 8.9 × 10−4 | ANXA9 | 3′UTR | – | −6.0 |
Melanoma | rs16953002 | chr16:54114824 | FTO | cg01083598 | −0.169 | 7.2 × 10−3 | – | – | Island | −41.2 |
Melanoma | rs35390 | chr5:33955326 | SLC45A2 | cg01990593 | 0.689 | 8.8 × 10−3 | ADAMTS12 | Body | Shore | 65.0 |
Melanoma | rs1801516 | chr11:108175462 | ATM | cg08954307 | −0.249 | 9.8 × 10−3 | ATM | Body | – | −59.3 |
Cutaneous nevi | rs4636294 | chr9:21747803 | MTAP | cg03724238 | −0.128 | 0.013 | – | – | Island | 51.1 |
Melanoma | rs4698934 | chr4:106139387 | TET2 | cg08530497 | −0.195 | 0.037 | TET2 | Body | – | −15.9 |
Melanoma | rs1847134 | chr11:89005253 | TYR | cg25941151 | −0.153 | 0.041 | TYR | TSS200 | – | 94.3 |
Melanoma (2) | rs7023329 | chr9:21816528 | CDKN2A | cg14548963 | 0.118 | 0.068 | MTAP | Body | – | 3.6 |
Melanoma (2) | rs1393350 | chr11:89011046 | TYR | cg03508346 | −0.118 | 0.142 | NOX4 | 3′UTR | – | −48.8 |
Melanoma | rs17119461 | chr10:107516352 | NR | cg18758405 | −0.290 | 0.333 | – | – | – | 65.0 |
Melanoma | rs1889497 | chr6:65432283 | EYS | cg11999886 | −0.026 | 0.760 | EYS | Body | – | 90.8 |
Abbreviations: GWAS, genome-wide association studies; SNP, single nucleotide polymorphism; TSS, transcription start site; UTR, untranslated region.