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Table 1 Direct sequencing of the 21q22.3 block to identify single-nucleotide variants a

From: Functional variants at the 21q22.3 locus involved in breast cancer progression identified by screening of genome-wide estrogen response elements

 

Base pairs

Half-ERE sites

SNPsb(n)

Novel SNPsb(n)

Exonic SNPsc(n)

Novel exonic SNPsc(n)

SNPs in the TF binding sited(n)

Binding to ERα detected by ChlP

21q22.3 block

9,940

17

37

6

3

0

10

Only the one below

ERα-binding sequence within 21q22.3

803

3

3

0

1

0

2

Yes

  1. aChIP, Chromatin immunoprecipitation; ERα, Estrogen receptor α; ERE, Estrogen response element; SNP, Single-nucleotide polymorphism; TF, Transcription factor; N, the number of nucleotide. bBased on HapMap CHB (Han Chinese in Beijing, China), dbSNP137 and direct sequencing of blood specimens from 58 individuals. The novel SNPs were identified by the sequencing of 58 individuals. cBased on HapMap CHB, dbSNP137 and exonic sequencing of blood specimens from 100 individuals, no exonic SNP was identified. dBased on Encyclopedia of DNA Elements (ENCODE). The eight SNPs within the TF binding sites but outside the ERα-binding sequence showed no evidence of ERα binding.