Fig. 5
From: Genetic impacts on DNA methylation help elucidate regulatory genomic processes
Underlying mechanisms of meQTL SNPs. a Example of a cis-meQTL mechanism. The disruption of a TFBS (e.g. CTCF binding site) by a genetic variant (rs79197902), leads to reduced protein binding affinity, which changes local methylation (cg03916490, cg18402987). b Example of an ‘eQTL-mediation mechanism’ for trans-meQTLs. SNP rs520558 that is an eQTL for a gene involved in DNA methylation regulation (SENP7) indirectly affects distal CpG sites (cg24214260). Dashed lines represent associations for which there is suggestive, but not conclusive, evidence of directionality. c Example of a ‘cis-meQTL-mediation mechanism’ for trans-meQTLs. SNP rs28711261 is associated with a nearby CpG (cg16218405), which in turn is associated with a gene involved in DNA methylation regulation (ACD gene of TPP1), and indirectly affects distal CpG sites (cg14343953)