Fig. 4: Analysis of variation affecting TF occupancy. | Nature Communications

Fig. 4: Analysis of variation affecting TF occupancy.

From: Tissue context determines the penetrance of regulatory DNA variation

Fig. 4

a Overlap of imbalanced SNVs with matches to TF motifs from different large-scale collections. b. Frequency of aggregate imbalance at SNVs overlapping TF motifs from a large-scale SELEX-seq database48 and DNase I footprints aggregated across all cell types. Results are stratified by the FIMO value of overlapping TF motifs (if any). n = 357,303 SNVs. c Enrichment by TF family of imbalanced SNVs in TF core recognition sequences, relative to flanking sequence. Each point corresponds to a TF motif, grouped into TF families on the Y-axis. Shown are TF families with at least one enriched motif. d TF profiles for NFIX, CTCF, and HNF1A. For comparison, profiles generated from published analysis in human4 are shown below in blue.

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