Figure 4.

Schematic and example of an interacting SNP that helps the creation of an evQTL. (A) L indicates the group of individuals with evSNP genotype (C/C) associated with large variance in gene expression, while S indicates that with evSNP genotype (A/A) associated with small variance. The interacting SNP shows large genotype heterogeneity in the L group and small or no genotype heterogeneity in the S group. (B) Real example of evSNP rs742090 and interacting SNP rs3799378 at BTN3A2. Individuals with rs742090-CC genotype are further broken down by rs3799378 into three subgenotype groups, which are associated with different means of gene expression levels (shadowed panel).