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. 2024 Aug 12;111(9):1932–1952. doi: 10.1016/j.ajhg.2024.07.010

Figure 5.

Figure 5

Three examples of mediating SNP-CpG-gene triplets

Methylated CpG sites are represented by a filled black circle, and un-methylated CpG sites are represented by an empty circle.

(A) Hypothetical mechanism by which cg05215272 mediates an eQTL effect on ALOX12 expression where ALOX12 has been implicated in melanoma, vitiligo, psoriasis, and atopic dermatitis.

(B) Hypothetical mechanism by which cg21460582 mediates an eQTL effect on CSPG4 expression, which is strongly associated in melanoma.

(C) Hypothetical mechanism by which CDK10 expression mediates a meQTL effect on cg00001687.