Mapping of regulatory elements to ZFP57 expression. ( A ) Linkage disequilibrium (LD) plot for region chr6:29.61 – 26.66(Mb) based on the r 2 calculation of 163 A2-B46-DR9 intra-CEH variants/SNPs in 105 unrelated Southern Han Chinese individuals (1000 Genome Project). LD block is defined as a block of SNPs with all pairwise r 2 value > 0.8. (B) Haplotypes found in each LD block. Population haplotype frequency is shown at the side of each haplotype. Connecting lines between blocks indicate crossover to the next block. Block in black indicates allele of variant associated with ZFP57 expression while white indicates allele associated with non ZFP57 expression. (C) Luciferase activity for alleles of each intra-CEH variants in LD blocks 2 to 4. Reporter plasmids carrying the fragment sequence of each unique allele of a certain variant were co-transfected with Renilla control vector into HT1080 cells. The luciferase activity readout was normalized to Renilla luciferase activity and the representative results from three independent experiments are shown. Variants with significant differential allelic luciferase activity (P
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