Figure 6: Characterization of complex trait-associated trans-eQTLs.
From: Genetic effects on gene expression across human tissues
a, Association of rs1867277 with PEER-corrected TMEM253 expression (P ≤ 2.2 × 10−16). b, Quantile–quantile plot of associations between 19 variants in the 9q22 locus and all genes in GTEx thyroid gene expression levels, compared to 19 random variants from the same chromosome, and associations between 23 variants in the 9q22 locus and all genes in TCGA thyroid tumour expression data, compared to 23 random variants from the same chromosome. c, Network depicting cis and trans regulatory effects of rs1012793 mediated through interferon regulatory factor 1 (IRF1). Rs1012793 affects expression of IRF1 in cis and PSME1 and PARP10 in trans (box plots). IRF1 is significantly co-expressed with the trans-eGenes. Colours in scatter plots refer to genotype at rs1012793. d, cis and trans association significance of variants within 1 Mb of the IRF1 TSS in the chromosome 5 locus with cis-eGene IRF1 (blue) and trans-eGene PSME1 (brown), showing concordant signal across the locus. Box plots depict the IQR, whiskers depict 1.5× IQR.
