Skip to main content
. 2017 Apr;137(4):910–920. doi: 10.1016/j.jid.2016.11.029

Table 3.

Strongest CpG association per GWAS SNP

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.