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. Author manuscript; available in PMC: 2014 May 13.
Published in final edited form as: Science. 2013 Oct 11;342(6155):253–257. doi: 10.1126/science.1242088

Fig. 2. Regulatory variants at BCL11A.

Fig. 2

(A) Genotype data obtained in 1,178 individuals from CSSCD for 38 variants within BCL11A +62, +58 or +55 DHSs. Most highly significant associations to HbF level among common (MAF > 1%) SNPs (n = 10) prior to (rs1427407) or following (rs7606173) conditional analysis on rs1427407. SNP coordinates chromosome 2, build hg19.

(B) Chromatin from erythroblasts of individuals heterozygous for rs1427407, immunoprecipitated by GATA1 or TAL1 and pyrosequenced to quantify the relative abundance of the rs1427407-G allele. Composite half E-box–GATA motif previously identified (23).

(C) gDNA and cDNA from erythroblasts of individuals heterozygous for rs1427407, rs7606173 and rs7569946. Haplotyping demonstrated rs7569946-G, rs1427407-G and rs7606173-C on the same chromosome in each. Pyrosequencing to quantify the relative abundance of the rs7569946-G allele.