Fig. 2

Mapping and characteristics of memo-eQTLs. A The framework of memo-eQTL mapping method and its implementation in the CPGEA cohort (sig: significant; sigDiff: significantly different; relH and relL refer to the subsamples with relatively high and low methylation levels at corresponding meCpG site, respectively). B Four different groups of SNP-meCpG-Gene combinations based on comparisons of M3 versus M1 and M3 versus M2 after requiring that M3 be significant. Note that combinations belonging to the group 1 (G1) are considered as memo-eQTLs. C Canonical eQTL (left) and meQTL (right) analysis for SNP rs28452766 with gene OSR2 and CpG site at chr8:98,471,622, respectively. D Visualization of selected memo-eQTL, depicting the relationship between rs28452766 and OSR2 in subsamples with relatively high (relH: Beta ≥ 0.67) and low (relL: Beta < 0.67) methylation levels at chr8:98,471,622. E The comparisons of the relative variance of gene expression can be explained by SNP × meCpG across groups G1-4 (Wilcoxon rank-sum two-sided test: ****p < 0.0001)