Fig. 1.
cis-Regulatory Module (cRM). A cis-eQTL affecting gene A in tissue 1 reveals itself by an “eQTL Association Pattern” (EAPA,1), i.e., the pattern of –log(p) values for variants in the region. Multiple EAP can be observed in a given chromosome region, affecting one or more genes in one or more cell types. EAP that are driven by the same underlying variants are expected to be similar, while EAP driven by distinct variants (for instance, the green and red regulatory variants in the figure) are not. Based on the measure of similarity introduced in this work, ϑ, we cluster the EAP in cRM. For EAP in the same module, ϑ can be positive or negative, indicating that the variants have the same sign of effect (increasing or decreasing expression) for the corresponding EAP pair