Fig. 2

Enrichment of pMEIs in different functional genomic regions of affected genes in eQTL analysis (a–e) and sQTL analysis (f–j). Functional genomic regions include enhancers from the Dragon Enhancers Database (DENdb) (a, f); 10 kb upstream from the transcription starting site (TSS) (b, g), 10 kb downstream (c, h), exons (d, i), and introns of the affected gene (e, j). pMEIs were divided into three categories: NS, pMEIs that were not reported to be significantly related with any gene or ASE in any tissue; related, pMEIs that were significantly associated with at least one gene or ASE but were not reported as causal; causal, pMEIs that were reported as causal for at least one gene or ASE (see the “Methods” section for details). The bar plot shows the proportion of pMEIs in each genomic feature in each category (NS, related, or causal). Values inside the bars are fold enrichment compared to NS, and values above the bars are p value from Fisher’s exact test for significance of enrichment compared to NS. For exons in the eQTL analysis in d, the fold enrichment values are not available because the proportion of pMEIs in exon is zero in NS