Fig. 5: cis-eQTL mapping of VNTRs.
From: Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
a eVNTR discoveries in 20 human tissues. The quantile-quantile plot shows the observed P-value of each association test (two-sided t-test) versus the P-value drawn from the expected uniform distribution. Black dots indicate the permutation results from the top 5% associated (gene, VNTR) pairs in each tissue. The regression plots for ERAP2 and KANSL1 are shown in c and d. b Effect size distribution (n = 2510) of significant associations from all tissues. c, d Genomic view of disease-related (eGene,eVNTR) pairs (ERAP2, chr5:96896863–96896963) (c) and (KANSL1, chr17:46265245–46265480) (d) are shown. Red boxes indicate the location of eGenes and eVNTRs.
