Figure 6.

Population-specific structural variant and SV-eQTL in the 1000 Genomes Project dataset. (A) Example of an insertion at appreciable frequency (~ 14%) in the AFR super population while rare (< 3%) in the other super populations. The variant is a 1,011 bp expansion of a VNTR in the coding sequence of the MUC6 gene. (B-C) Association between a 10,083 bp insertion overlapping a predicted enhancer and the gene expression of the PRR18 gene. (B) Each allele is associated with an increase in gene expression. (C) shows the position of significant eQTLs (SNV/indels in green, insertions in blue). All the eQTLs are in the intergenic region downstream of the PRR18 gene. The y-axis represents the significance of the association, with the top eQTL being the highest point. Of note, the lead eQTL (the 10,083 bp insertion) overlaps a region predicted to be an enhancer by ENCODE.