Extended Data Fig. 11: Enrichment of imbalanced variants within footprinted TF recognition sequences.
From: Global reference mapping of human transcription factor footprints
a–d, Distribution of SNVs around the recognition sequences for CREB/ATF, NFI, TEAD and TFAP2 TFs. For each TF, shown are the total SNVs tested for imbalance (top), imbalanced variants (middle), and the proportion of variants imbalanced stratified overlap with a consensus footprint. e, log2 enrichment of imbalanced variants residing within TF recognition sequences relative to non-imbalanced SNVs for both variants within footprinted (blue) and non-footprinted motifs (orange). Motifs are grouped into clusters, where each point represents an individual motif model (Extended Data Fig. 4, Supplementary Table 2 and Supplementary Methods). Black bars indicate mean enrichment across all motifs in each cluster and footprint overlap. Only motifs with significant (q < 0.05) enrichment of imbalanced SNVs with a footprinted recognition sequence are shown.
