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Table 3 The effect of allelic variation on transcription factor binding affinity

From: Multiple selective sweeps of ancient polymorphisms in and around LTα located in the MHC class III region on chromosome 6

Genomic coordinate

rs identifier

Reference allele

Alternate allele

Genic region

Transcription factor

Selection status

MAF

ClinVar

31,532,814

rs2857709

A

G

intergenic

ELF-1

Yes

Common

No

31,533,718

rs4947326

A

G

intergenic

Zfx

Yes

Common

No

31,533,722

rs113019108

C

T

intergenic

Zfx

No

Common

No

31,533,728

rs4947327

G

A

intergenic

Zfx

Yes

Common

No

31,534,206

rs2844485

A

G

intergenic

Nr1h3/Rxra

No

Common

No

31,535,455

rs549446426

G

A

intergenic

Arnt/Ahr, EGR2

No

Common

No

31,535,459

rs62395772

G

A

intergenic

Arnt/Ahr, EGR2

No

Common

No

31,535,462

rs538596719

T

C

intergenic

Arnt/Ahr, EGR2

No

Common

No

31,536,796

rs2844483

T

G

intergenic

FOXI1, Foxd3

No

Common

No

31,537,221

rs62395778

G

A

intergenic

IRF1, ZNF263

No

Common

No

31,540,313

rs909253

A

G

intronic

SPIB

No

Common

Yes

31,540,693

rs3093542

G

C

intronic

ZNF263

Yes

Common

No

31,541,848

rs3093547

T

A

non-coding exon/UTR

ARID3A, Prrx2

No

Common

No

  1. SNP2TFBS [55] was used to map variants to known transcription factor binding sites (TFBSs) in the human genome. In the Table, we have listed the genomic coordinate (from build GRCh 37) of each polymorphic site along with the rs identifier, Reference/Alternate alleles, the genic region in which each site is located, as well as the corresponding transcription factor that binds to the TFBSs where polymorphisms occurred. Furthermore, we indicated whether or not a given polymorphic site was inferred to be under selection (Yes/No) and if alleles at this site were common (based on minor allele frequency [MAF]). We also determined if variants were previously reported in the ClinVar database (Yes/No) [57]