Mapping of promoter usage QTL using RNA-seq data reveals their contributions to complex traits
Fig 1
puQTL mapping using RNA-seq data.
(A) Schematic view of eQTL and puQTL mapping. (B) Pipeline for puQTL mapping. 1KGP, the 1000 Genomes Project; MAF, minor allele frequency; GTF, gene transfer format. (C) Quantile–quantile plot of P-values. The nominal pass results of chromosome 22 are plotted, and the red line indicates the expected P-values under the null hypothesis. (D) Distribution of the distance of puQTL best hit variants from the target promoters. (E) Overlap of puQTL genes and eQTL genes. (F) Counts of puQTL associated with multi-promoter genes based on categories of proximity to their target promoters. “Nearest” means that the puQTL targets the nearest promoters of the associated genes, “2nd” means that they target the second nearest promoters, and so forth.