Fig. 4

The rs1061632 variant alters ETV7 expression through the regulation of IRF7 binding. A IRF7 motif extracted from the RegulomeDB. The red box indicates the nucleotide altered by rs1061632. B Correlation of the genes affected by rs1061632 with IRF7. Color indicates the Spearman correlation of gene expression in PBMCs extracted from 100 healthy controls from the validation control (500FG) cohort. C-E Effect of rs1061632 on (C) ETV7 expression, (D) ETV7/IRF7 ratio, and (E) IRF7 expression, as extracted from the RNAseq data from the validation control (500FG) cohort. Gene expression counts were normalized using DEseq2 and log10 transformed. P-values were calculated using Wilcoxon rank-sum test