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[…] e less than median was considered as under expression. We then determined co-expression of putative target genes at the site of over expression/under expression of SIM2 and ETS2 and promoter sites of these genes were analyzed by GENEDOC and Promoter Scan tools respectively ( Functions of these putative target genes along with SIM2 and ETS2 in various biological pathways was analyzed by Panther ( and KEGG pathway ( The entire process is presented schematically in Figure ., We used different web based tools namely SIFT (, PolyPhen (, SNPs3D (, Pupasuite 2 (, GlobPlot, FastSNP (, [email protected] (, and dbSMR ( to identify fSNPs in the genomic regions of SIM2 and ETS2 as reported earlier []. fSNPs selected for genotyping in the present study are listed in Table . , aNS = Nonsynonymous, Syn = Synonymous, Cod = Coding, FS = Frame shift., bA1 = Major allele, A2 = Minor allele, allele mentioned in bold letter is the ancestral allele., cNK = Not known., dCEU: Caucasians from Utah with ancestry from western and northern Europe; YRI: Yoruba from Ibadan, Nigeria; HCB: Han Chinese from Beijing, China and J […]

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