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Table 1 List of positive SNP candidates for EMSA studies. The genes and the SNPs which were tested in this report are indicated in bold text. The name of the TF and the predicted consensus site from the transcription start site are indicated.

From: Identification of functional SNPs in the 5-prime flanking sequences of human genes

Gene Name /Ensembl ENSG

TF name (distance from start site)

SNP rs ID

Allele 1

Allele 2

Beta-2 adrenergic receptor ENSG00000164272

Nkx(-4257)

rs2082382

ttcagtg

ttcggtg

 

Gklf(-4216)

rs2082395

aagtgagaag

aagtgagaaa

 

c-ETS(-1049)

rs1432622

gatcct

gatctt

P2y purinoceptor 5 (p2y5) ENSG00000139679

SAP-1(-149)

rs2233571

agcggaaat

agtggaaat

Anion exchange protein 2 ENSG00000164889

Yin-Yang(-3480)

rs2069453

gccatg

gccgtg

 

c-ETS(-2988)

rs2069451

tttccc

tgtccc

 

SPI-1(-2988)

rs2069451

gggaaa

gggaca

 

SPI-B(-2990)

rs2069451

atgggaa

atgggac

 

c-MYB_1(-1536)

rs2069442

gggagttg

gggacttg

 

Nkx(-1537)

rs2069442

tcaagtc

tcaactc

 

SP1(-1440)

rs2069441

agggctggga

agagctggga

C-c chemokine receptor type 1 ENSG00000163823

SPI-B(-117)

rs3181080

acaagaa

actagaa

 

SOX17(-118)

rs3181080

tttcttgtc

tttctagtc

Frizzled 6 precursor (frizzled-6) ENSG00000164930

deltaEF1(-629)

rs3758096

caccta

aaccta

Proteinase activated receptor 3 ENSG00000164220

c-ETS(-32)

rs2069647

catcct

cctcct

 

deltaEF1(-31)

rs2069647

ctcctt

atcctt

Chemokine (C-X-C) receptor 6 ENSG00000163819

c-MYB_1(-469)

rs2234352

tacagatg

tatagatg

 

Thing1-E47(-469)

rs2234352

catctgtaaa

catctataaa

5-hydroxytryptamine 1a receptor ENSG00000178394

ARNT(-2174)

rs968554

caagtg

caactg

 

c-MYB_1(-2174)

rs968554

tccagttg

tccacttg

 

deltaEF1(-2174)

rs968554

cacttg

cagttg

 

n-MYC(-2174)

rs968554

cacttg

cagttg

 

USF(-2174)

rs968554

caagtgg

caactgg

 

USF(-2175)

rs968554

cacttgg

cagttgg

 

ARNT(-2174)

rs968554

cacttg

cagttg

 

deltaEF1(-2174)

rs968554

caactg

caagtg

 

n-MYC(-2174)

rs968554

caagtg

caactg

Muscarinic acetylcholine receptor M1 ENSG00000168539

MZF_1-4(-148)

rs509813

tggggg

tggcgg

 

MZF_5-13(-149)

rs509813

gtggggggag

gtggcgggag

 

MZF_1-4(-147)

rs509813

gggggg

ggcggg

 

SP1(-147)

rs509813

ggggggagga

ggcgggagga

Dopamine receptor D1a ENSG00000184845

FREAC-4(-4311)

rs267412

gtaaaccc

gtaagccc

 

TCF11MafG(-4446)

rs267413

actgac

acagac

Follicle stimulating hormone receptor ENSG00000170820

HFH-3(-81)

rs2882225

ggatgctttttt

ggatgctgtttt

 

HFH-2(-82)

rs2882225

gatgcttttttt

gatgctgttttt

 

c-ETS(-80)

rs2349718

cttctt

cttttt

 

Gklf(-87)

rs2349718

aaaaaaaaag

aaaaaaaaaa

 

SPI-1(-80)

rs2349718

aagaag

aaaaag

5-hydroxytryptamine 2c receptor ENSG00000147246

HFH-1(-1736)

rs3795182

ccatgtttata

ccatatttata

 

MEF2(-1734)

rs3795182

atatttataa

atgtttataa

 

FREAC-4(-1734)

rs3795182

ataaacat

ataaatat

 

c-ETS(-271)

rs3813928

tatcct

taccct

 

MZF_1-4(-273)

rs3813928

tgagga

tgaggg

 

SPI-B(-273)

rs3813928

tgaggat

tgagggt

Bradykinin receptor 2 ENSG00000168398

Ahr-ARNT(-535)

rs945032

tgggtg

tgggta

 

MZF_1-4(-80)

rs1800508

tgggca

tgagca

 

AP2alpha(-79)

rs1800508

gcccaggag

gctcaggag

 

TCF11-MafG(-61)

rs1799722

aatgat

agtgat

Adenosine A3 receptor ENSG00000121933

AP2alpha(-4276)

rs1538251

gccctctgg

tccctctgg

Alpha-1a adrenergic receptor ENSG00000120907

c-ETS(-4898)

rs562843

cttctt

cttatt

 

SPI-1(-4898)

rs562843

aagaag

aataag

 

Nkx(-4900)

rs562843

ataagtt

agaagtt

C-c chemokine receptor type 2 ENSG00000121807

TCF11MafG(-1823)

rs3092964

catgcc

catacc

 

Ahr-ARNT(-1825)

rs3092964

tgcatg

tgcata

 

TCF11MafG(-1823)

rs3749462

catgcc

catacc

 

Ahr-ARNT(-1825)

rs3749462

tgcatg

tgcata

Putative chemokine receptor ENSG00000119594

SPI-B(-86)

rs3825163

tcaggaa

ccaggaa

 

FREAC-4(-80)

rs3825163

gtaaccat

ataaccat

 

TCF11-MafG(-81)

rs3825163

gataac

ggtaac

 

Nkx(-161)

rs2256572

ttatttg

ctatttg

 

S8(-163)

rs2256572

tatta

tacta

 

TCF11MafG(-232)

rs590447

gctgac

gccgac

 

deltaEF1(-230)

rs590447

cagctt

cggctt

Calcitonin receptor ENSG00000004948

TCF11MafG(-511)

rs2528521

agtgac

agtggc

Lectomedin-3 ENSG00000150471

AP2alpha(-770)

rs905963

gccccgagc

accccgagc

 

SPI-1(-763)

rs905963

gcgaac

gcgagc

 

c-ETS(-365)

rs1505666

cctcct

ccttct

 

SPI-1(-366)

rs1505666

gagaag

gaggag

 

MZF_1-4(-367)

rs1505666

agagga

agagaa

Glucagon-like P2 ENSG00000065325

SPI-B(-881)

rs1402655

tgagaaa

tgataaa

G protein-coupled receptor ENSG00000102865

Yin-Yang(-118)

rs2240047

gccatg

gccctg

 

TCF11MafG(-118)

rs2240047

catggc

cagggc

 

Gfi(-1575)

rs724615

aaaatcacag

aaaatgacag