Fig. 4: Chromatin interactions with the SHH promoter.

a 4C contact profiles in lymphoblastoid cells from wildtype (WT) and proband (Mut) at the LMBR1-SHH locus. The viewpoint is depicted by a black arrowhead. The median and 20th and 80th percentiles of sliding 2–50 kb windows determine the main trend line. The color scale represents enrichment relative to the maximum medium value attainable at 12 kb resolution. CTCF and RAD21 ChIP-seq peaks are shown as black and blue vertical line respectively. The ZRS and the acheiropodia-associated deleted region are shown as orange and blue vertical lines respectively. CTCF orientations are shown as red triangles. b Zoom in of the region around the LMBR1 gene.