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Table 2 List of tag-SNPs, chromosomal location, SNP identifier number, chromosomal position, location in or near gene, ancestral gene, reference/alternative alleles, alternative allele frequency q(alt) in Caucasian (EUR) and African (AFR) populations from the 1000 Genomes Project, and q(alt) in cohort studied

From: Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype and AHR, CYP1A1, CYP1A2, or CYP1B1 genotype

SNP #

Gene

Chr

SNP ID

Chromosomal positiona

Location in or near the geneb

Ancestral allelec

Reference /alternative allele

q(alt) EUR

q(alt) AFR

q(alt) in present cohort

1

AHR

7

rs62444550

17290494

−8128C > A, promoter

A

C/A

0.4264

0.6407

0.4265

2

AHR

7

rs77821156

17291826

−6796A > G, promoter

A

A/G

0.0815

0.0045

0.0900

3

AHR

7

rs10250822

17293365

−5257 T > C, promoter

T

T/C

0.2217

0.0908

0.2370

4

AHR

7

rs4719497

17295275

−3347 T > C, promoter

T

T/C

0.1243

0.0083

0.1374

5

AHR

7

rs3757824

17296411

−2211 T > C, promoter

T

T/C

0.2127

0.1490

0.1706

6

AHR

7

rs7796976

17298806

+185G > A, 5′-UTR, exon 1

G

G/A

0.2217

0.0840

0.00

7

AHR

7

rs713150

17300533

+1912C > G, intron 1

C

C/G

0.2177

0.1354

0.2322

8

AHR

7

rs17722841

17303970

+5349G > A, intron 1

G

G/A

0.1690

0.0061

0.1919

9

AHR

7

rs2282885

17305990

+7369A > G, intron 1

A

A/G

0.3956

0.0189

0.3697

10

AHR

7

rs2282883

17316723

+18102C > T, intron 2

T

C/T

0.3469

0.6293

0.3720

11

AHR

7

rs4236290

17323944

+253233 T > C, intron 3

T

T/C

0.1064

0.0061

0.1114

12

AHR

7

rs2158041

17328796

+30175C > T, intron 4

C

C/T

0.2187

0.0340

0.2322

13

AHR

7

rs3802082

17330557

+31936A > T, intron 5

A

A/T

0.1769

0.1513

0.1374

14

AHR

7

rs7811989

17331739

+33118G > A, intron 6

G

G/A

0.2396

0.1135

0.2749

15

AHR

7

rs2074113

17334147

+35526G > T, intron 7

G

G/T

0.1043

0.1520

0.0711

16

AHR

7

rs2066853

17339486

+40865G > A, exon 10, R554K

A

G/A

0.1083

0.4622

0.0995

1

CYP1A1

15 (rev)

rs4646903

74719300

CYP1A1*2A, Msp I RFLP Site, +6311A > G, downstream 3′

A

A/G

0.1074

0.2345

0.1066

2

CYP1A1

15 (rev)

rs2606345

74724835

+776A > C, intron 1

C

A/C

0.3370

0.9501

0.3768

3

CYP1A1

15 (rev)

rs3826042

74726564

−954C > T, promoter

C

C/T

0.0417

0.0053

0.0498

4

CYP1A1

15 (rev)

rs7495708

74727502

−1892 T > C, promoter

C

T/C

0.1541

0.5696

0.1919

1

CYP1A2

15

rs2069514

74745879

CYP1A2*1C, −2965G > A, promoter

G

G/A

0.0199

0.3132

0.0616

2

CYP1A2

15

rs762551

74749576

CYP1A2*1 F, +733A > C, intron 1

A

A/C

0.3201

0.4380

0.2796

3

CYP1A2

15

rs2470890

74755085

CYP1A2*1B, +6242 T > C, exon 7, N516N (syn)

C

T/C

0.4036

0.9720

0.3981

4

CYP1A2

15

rs17861162

74756412

+7569C > G, downstream 3′

C

C/G

0.0626

0.1604

0.0592

1

CYP1B1

2 (rev)

rs162562

38070372

+5810 T > G, 3′UTR

T

T/G

0.2187

0.6694

0.2701

2

CYP1B1

2 (rev)

rs1800440

38070996

CYP1B1*4, +5186 T > C, exon 3, N453S

T

T/C

0.1958

0.0068

0.1588

3

CYP1B1

2 (rev)

rs1056837

38071007

+5175G > A, exon 3, D449D (syn)

G

G/A

0.3976

0.7988

0.4692

4

CYP1B1

2 (rev)

rs1056836

38071060

CYP1B1*3, +5122C > G, exon 3, L432V

C

C/G

0.3976

0.8169

0.4716

5

CYP1B1

2 (rev)

rs1056827

38075034

CYP1B1*2, +1148C > A, exon 2, A119S

A

C/A

0.2892

0.5234

0.2962

6

CYP1B1

2 (rev)

rs10012

38075247

CYP1B1*2, +935G > C, exon 2, R48G

C

G/C

0.2903

0.5741

0.2986

7

CYP1B1

2 (rev)

rs162558

38076937

−756 T > C, promoter

T

T/C

0.1720

0.1846

0.2085

8

CYP1B1

2 (rev)

rs2855655

38077346

−1165C > T, promoter

C

C/T

0.3658

0.7345

0.4431

9

CYP1B1

2 (rev)

rs162557

38078309

−2128G > A, promoter

G

G/A

0.2376

0.2224

0.2536

10

CYP1B1

2 (rev)

rs162556

38079312

−3131A > G, promoter

A

A/G

0.5000

0.0348

0.4526

11

CYP1B1

2 (rev)

rs162555

38080367

−4186 T > C, promoter

T

T/C

0.1750

0.1664

0.2014

12

CYP1B1

2 (rev)

rs10175368

38080719

−4538C > T, promoter

C

C/T

0.2853

0.0613

0.2559

  1. Chr chromosome, rev reverse strand, syn synonymous, q(alt) frequency of alternative allele
  2. aGenome Assembly GRCh38.p2 (Annotation Release 107)
  3. bCalculated from the genomic sequences of Ensembl transcripts AHR-002 (ENST00000242057), CYP1A1-001(ENST00000379727), CYP1A2-001 (ENST00000343932), and CYP1B1-001 (ENST00000610745)
  4. cAncestral allele refers to the “phylogenetic root” based on sequence alignment of multiple (N = 6) primates, as reported in dbSNP