(A) Enrichment of orofacial cleft GWAS tag SNPs identified by Yu et al. (2017) in enhancer segmentations was assessed using GREGOR (Schmidt et al., 2015). Orange circles indicate craniofacial enhancer annotations identified by a 25-state chromatin model from this study, while gray circles indicate those previously published by Roadmap Epigenome (Roadmap Epigenomics Consortium et al., 2015).
(B) Enhancer state analysis permits placement of a potentially causative allele for non-syndromic CL/P (rs642961) (Rahimov et al., 2008) within a predicted early development enhancer state. This enhancer state is located between IRF6 and DIEXF and may influence expression of IRF6. (See also Table S4.)
(C) Same analysis as in (A) using GWAS tag SNPs reported for craniofacial measures by Claes et al. (2018). (See also Figure S9.)