Fig. 5

Genetic variation between erythroid cell lines reveals genetic regulatory sequences directing CTCF chromatin occupancy. a Sequence logo reflecting existing CTCF factor motif information and the percent impact on CTCF binding intensity (median ±  95% CI) associated with mutations at various positions and to particular alternative nucleotides. b TFs whose motifs significantly alter CTCF binding (% impact, median ± 95% CI) when disrupted by a discSNP. Vertical line indicates no effect, and color indicates significance level. c The effect of discSNPs that disrupt CTCF motifs on CTCF binding at constitutive, erythroid-specific, or erythroid differentiation-induced CTCF peaks. Percent impact, median ± 95% CI. * Wilcoxon's p = 1e−6, **p = 1.7e−14, ***p = 4.7e−39. d GFI1b and NFE2 motifs are enriched in erythroid-specific CTCF peaks (foreground) relative to constitutive CTCF peaks (background) both when considering all CTCF peaks and the subset that contain a CTCF motif discSNP as in Fig. 5c. Benjamini–Hochberg q-values: *q = 0.02, **q = 0.001, ***q = 0.0000