Supplementary Figure 9: Genetic and functional organization of the CL/P interval on 8q24.
From: Long-range enhancers regulating Myc expression are required for normal facial morphogenesis
(a) Schematic representation of the 8q24 region, from the UCSC browser. The interval showing strong association with CL/P identified by Birnbaum and colleagues3 is outlined in red, with the position of the SNP (rs987525) with the lowest P value indicated by a red bar. This interval consists of multiple LD blocks (HapMap Phased LOD track). Importantly, multiple SNPs along this broad interval showed association with CL/P, in part independently of rs987525 (refs. 3,5). The orthologous region to the (10–13) MNE is outlined in blue, with ovals showing candidate enhancer modules in the region, including the Vista hs1877 element14. (b) The critical MNE region contains two main LD blocks, as shown by Haploview, using HapMap CEU data (phase 2, r24)69.
