Fig. 2

Functional enrichment analysis of eQTLs. A, B eQTLs were categorized into gene eQTL-specific (green), common (brown), and ieQTL-specific (yellow) groups. Functional enrichment was assessed for gene region annotations, super enhancers and regulatory regions, as well as transcription factor binding sites (TF binding sites) and major active and suppressive histone marks (ENCODE), which could associate with splicing. C, D eQTLs were categorized into gene eQTL-specific (orange), differential ieQTL (red), and opposite ieQTL (blue) groups. A functional enrichment analysis was conducted for gene region annotations, super enhancers and regulatory regions, and TF binding sites and histone marks. The y-axis shows odds ratios and 95% confidence intervals