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Fig. 3. | BMC Biology

Fig. 3.

From: Tropomyosin 1 genetically constrains in vitro hematopoiesis

Fig. 3.

Exemplary high-scoring eQTLs near the PIK3CG and TPM1 gene loci overlap putative GATA binding sites and are associated with altered platelet traits. a High-scoring platelet trait GWAS SNP rs342293 (black) and linked SNPs (EUR r2 > 0.7, cyan) lie upstream of PIK3CG. Bar heights depict SNP scores. b This region overlaps a dynamic accessible chromatin region during hematopoiesis [53]. Accessible chromatin (ATAC-Seq) data are shown for hematopoietic stem cells (HSC), CD34+ hematopoietic progenitor cells, megakaryocyte-erythroid progenitors (MEP), and erythroblasts (Ery). c The local DNA sequence for rs342293 (underlined) includes a canonical GATA binding site [38] (red). d Platelet phenotypes associated with rs342293 alleles [12]. e SNP scores near platelet trait GWAS SNP rs11071720 (black) and linked SNPs (EUR r2 > 0.7, cyan). Bar heights depict SNP scores. f ATAC-Seq regions at this locus are shown for the indicated cell types [53]. g Local DNA sequence shows a putative GATA binding site [38] (red) around rs11071720 (underlined “T”). h The major and minor rs11071720 alleles and associated platelet phenotypes [6, 54]. Allele percentages based on UCSC Genome Browser and dbSNP

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