Extended Data Fig. 13: Nucleotide-resolved patterns of genetic variation within TF binding sites.
From: Global reference mapping of human transcription factor footprints
a–c, Per-nucleotide profiles of phyloP scores (top) and human nucleotide diversity (π) (bottom) within footprinted motifs for ETS1 (a), JDP2 (b), and CTCF (c) motifs. Black box in the motif consensus logo annotates CpG dinucleotides. Asterisk indicates the position of the CpG dinucleotide in the profiles below. d–f, Ancient and recent constraints at the TF recognition sequences with respect to proximity to DHSs and consensus footprints. TF recognition sequences are grouped by those residing within ±5 kb of DHS peaks but not inside (outside DHS), inside DHSs but not a footprint (outside footprint) and those overlapping a consensus footprint. Top, percentage of TF recognition sequence under elevated evolutionary constraint (mean phyloP score >1) in each group. Bottom, mean nucleotide diversity within the footprinted motifs additionally stratified by evolutionary constraint. Boxes indicate median and IQR of enrichments from 1,000 bootstrap samples. Whiskers, 5th and 95th percentile.
