Figure 7. Evolutionary and epigenetic comparisons of cCREs.

(A) Workflow of generating three evolutionary categories for blood cell cCREs in human and mouse. N=nonconserved, S=conserved in sequence but not inferred function, SF=conserved in both sequence and inferred function as a cCRE, y=yes, n=no. (B) PhyloP scores for three evolutionary categories of cCREs in human and mouse. The maximum phyloP score for each genomic interval was used to represent the score for each cCRE. The distribution of phyloP scores for each group are displayed as a violin plot. The asterisk (*) over brackets indicates comparison for which the P values for Welch’s t-test is less than 2.2e-16. (C) Enrichment of SF-conserved human cCREs for TSSs. The number of elements in seven sets of function-related DNA intervals that overlap with the 32,422 SF human VISION cCREs was determined (bedtools), along with the number that overlap with three randomly selected subsets (32,422 each) from the full set of 200,342 human cCREs. The ratio of the number of function-related elements overlapping SF-cCREs to the number overlapping a randomly chosen subset of all cCREs gave the estimate of enrichment plotted in the graph. The mean for the three determinations of enrichment is indicated by the horizontal line for each set. Results are also shown for a similar analysis for the S and N cCREs.