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Table. 3.

Table. 3.

Results of the Regulome DB and HaploReg of two SNP in the MACROD2 gene

SNPA1A2Regulome DBHaploReg


ScoreTFBSDNaseProteins boundMotifsDNaseEnhancer histone marksMotifs changed
rs16996211TA6Freac-7, HFH8(FOXF1A), Foxa24 organs9 altered motifs
rs6034240CT4++CTCFBRST, BRNHoxb9, Pou5f1

Abbreviations: SNP, single nucleotide polymorphism; A1, minor allele; A2, major allele; TFBS, transcription binding factor site; +, affect; RegulomeDB is a database that annotates SNPs with known and predicted regulatory elements in the intergenic regions of the H. sapiens genome (http://www.regulomedb.org/index); HaploReg is a tool for exploring annotations of candidate regulatory SNPs (http://archive.broadinstitute.org/mammals/haploreg/haploreg_v3.php).

Korean J Clin Lab Sci 2019;51:57-63 https://doi.org/10.15324/kjcls.2019.51.1.57
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