Table 1 Colocalization results of expression and methylation cis-QTLs from cultured melanocytes (eQTL and meQTL, respectively) with GWAS SNPs on each hair colour category.
From: A large Canadian cohort provides insights into the genetic architecture of human hair colour
Chromosome | Candidate SNP | Posterior probability | Regional probability | Posterior explained by SNP | Gene/methylation annotation | QTL |
|---|---|---|---|---|---|---|
Blonde Hair Colour | ||||||
5 | rs35391 | 0.83 | 0.85 | 0.43 | SLC45A2 | eQTL |
5 | rs35391 | 0.98 | 0.99 | 0.54 | SLC45A2|OpenSea | meQTL |
5 | rs35391 | 0.96 | 0.97 | 0.55 | OpenSea | meQTL |
6 | NA | NA | 0.95 | NA | OpenSea | meQTL |
14 | NA | NA | 1.00 | NA | SLC24A4 | eQTL |
14 | rs8022442 | 0.99 | 1.00 | 1.00 | OpenSea | meQTL |
14 | rs8022442 | 0.95 | 0.95 | 1.00 | SLC24A4 (Body) | OpenSea | meQTL |
15 | rs12913832 | 1.00 | 1.00 | 1.00 | OCA2 | eQTL |
15 | rs12913832 | 0.99 | 0.99 | 0.94 | AC090696.2 | eQTL |
15 | rs12913832 | 1.00 | 1.00 | 0.99 | HERC2 (Body) | OpenSea | meQTL |
15 | rs12913832 | 0.98 | 0.99 | 0.98 | HERC2 (Body) | S_Shelf | meQTL |
15 | rs12913832 | 0.98 | 0.98 | 0.98 | HERC2 (Body) | S_Shore | meQTL |
16 | rs258322 | 1.00 | 1.00 | 1.00 | CDK10 (TSS1500)|N_Shore | meQTL |
16 | rs258322 | 1.00 | 1.00 | 1.00 | LOC100130015 (Body); GAS8 (3’ UTR)|OpenSea | meQTL |
16 | rs258322 | 0.94 | 0.94 | 1.00 | DPEP1 (5’ UTR)|OpenSea | meQTL |
Brown Hair Colour | ||||||
5 | rs35391 | 0.83 | 0.85 | 0.57 | SLC45A2 | eQTL |
5 | rs35391 | 0.98 | 0.99 | 0.65 | SLC45A2 (1st Exon) | OpenSea | meQTL |
5 | rs35391 | 0.97 | 0.97 | 0.66 | Open Sea | meQTL |
6 | rs7773997 | 0.94 | 1.00 | 0.94 | Open Sea | meQTL |
15 | rs12913832 | 1.00 | 1.00 | 0.98 | OCA2 | eQTL |
15 | rs1129038 | 0.99 | 0.99 | 0.54 | AC090696.2 | eQTL |
15 | rs12913832 | 1.00 | 1.00 | 0.87 | HERC2 (Body) | OpenSea | meQTL |
15 | rs12913832 | 0.98 | 0.98 | 0.73 | HERC2 (Body) | S_Shelf | meQTL |
15 | rs12913832 | 0.97 | 0.97 | 0.74 | HERC2 (Body) | S_Shore | meQTL |
