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. Author manuscript; available in PMC: 2020 Mar 1.
Published in final edited form as: Am J Med Genet A. 2018 Dec 24;179(3):467–474. doi: 10.1002/ajmg.a.61002

Figure 2: Genomic position and activity localization of associated enhancers:

Figure 2:

(A) Position of the chromosome 3p13 craniofacial enhancer, mm60, and possible cis-regulatory target genes MITF and FOXP1. Chromatin states in normal human cell lines (dermal endothelium [HMEC], skeletal muscle [HSMM], epidermal keratinocytes [NHEK], and lung fibroblasts [NHLF]) are colored-coded with yellow and orange segments representing putative enhancer regions. The associated craniofacial enhancer, mm60, is active in the branchial arches at E11.5, and does not show enhancer chromatin states in cell lines. Other enhancers near FOXP1 (hs864, hs965) not associated with OFCs are active in the developing heart and limb, consistent with the expression pattern of FOXP1. (B) Position of the chromosome 9q22.33 craniofacial enhancer, hs1717, and possible cis-regulatory target gene FOXE1. The hs1717 enhancer can be subdivided into a smaller enhancer (hs1597), each showing activity in the forebrain. Enhancer activity of hs1717 is consistent with chromatin states in human cell lines.