Figure 3
From: eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues
Distribution of peak eQTLs in functional regulator elements based on ENCODE data. (a) The fraction of eindel (red bars) and eindel (blue bars) within heterochromatin marks (Ernst et al.55) by different ranges of MAF (MAF<0.05, 0.05≤MAF<0.1, 0.1≤MAF≤0.5). A star on the top of bar indicates significant depletion (P<10−4, Bonferroni correction for 12 × 3 categories is 0.05/36=1.39 × 10−3). (b–d) The fraction of eindel (red bars) and eindel (blue bars) in functional elements (Ernst et al55) by different ranges of MAF (b: MAF<0.05, c: 0.05≤MAF<0.1, d: 0.1≤MAF≤0.5) compared with randomly selected SNPs from the same MAF category and genome within ±500 kb of any genes (grey colour). Statistically different between eindels and eSNPs are also compared. A star on the top of bar indicates significant enrichment (P<10−4, Bonferroni correction for 12 × 3 categories is 0.05/36=1.39 × 10−3). A star with solid lines connecting the SNP and indel bars indicates significant difference between the SNP and indel categories (P<10−4).
