Figure 4.
Proximity to protein-coding genes and enrichment for eQTL highlight functions of regulatory annotations. (A) Enrichment for regulatory annotation elements in GM12878 to lie within distances (x-axis) of TSSs of protein-coding genes binned by gene expression specificity in LCLs (LCL-ESI). Enrichment calculated in comparison to 10,000 random samplings, 95% C.I.s shown. (B) Pearson correlation of LCL-ESI gene quintile bin numbers (increasing LCL specificity) with the fold enrichment of eQTL of these genes in regulatory annotations. Positive correlation shows that the eQTL for more LCL-specific genes are more enriched in annotations. Significant (P < 0.05) correlations are marked with “*.” eQTL, expression QTL; ESI, expression specificity index; HOT, high-occupancy target; LCL, lymphoblastoid cell line; TSS, transcription start site.