Genetics Genetics Research
CHROMOSOME 8 POU5F1B 8q24.21 GENE VIEW POU5F1B · 8q24.21 8q23 8q25 rs7014346 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs7014346 A / C · POU5F1B · 8q24.21 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs7014346

Gene: POU5F1B — POU Class 5 Homeobox 1B Chr 8:127412547 8q24.21 2KB upstream variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.360704G 0.639296AA 0.131468AG/GA 0.458472GG 0.41006pop=775,750 ↬
African A 0.39384G 0.60616AA 0.154881AG/GA 0.477918GG 0.367201pop=65,844
African American A 0.39382G 0.60618AA 0.155308AG/GA 0.477031GG 0.367661pop=63,564
African Others A 0.3943G 0.6057AA 0.142982AG/GA 0.502632GG 0.354386pop=2,280
Asian A 0.27482G 0.72518AA 0.077766AG/GA 0.394103GG 0.528131pop=14,788
East Asian A 0.27925G 0.72075AA 0.081042AG/GA 0.396406GG 0.522552pop=11,130
European A 0.362951G 0.637049AA 0.132493AG/GA 0.460916GG 0.406591pop=622,660
Latin American 1 A 0.35729G 0.64271AA 0.133546AG/GA 0.447479GG 0.418975pop=10,034
Latin American 2 A 0.29645G 0.70355AA 0.090741AG/GA 0.411417GG 0.497842pop=22,702
Other A 0.34535G 0.65465AA 0.12098AG/GA 0.448733GG 0.430286pop=31,658
Other Asian A 0.2613G 0.7387AA 0.067797AG/GA 0.387097GG 0.545107pop=3,658
South Asian A 0.3196G 0.6804AA 0.112847AG/GA 0.413442GG 0.47371pop=8,064

Studies13

Unread Studies13 ▼
1

Associations among dietary seaweed intake, c-MYC rs6983267 polymorphism, and risk of colorectal cancer in a Korean population: a case-control study.

Study ↗ PDF ↗
PID
Associations among dietary seaweed intake, c-MYC rs6983267 polymorphism, and risk of colorectal cancer in a Korean population: a case-control study.

2020 · Kim J, Lee J, Oh JH et al.

2

Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese.

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PID
Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese.

2016 · Tan C, Hu W, Huang Y et al.

3

Single Nucleotide Polymorphisms within the 8Q24 Region are Not Associated with the Risk of Intraductal Papillary Mucinous Neoplasms of the Pancreas.

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Single Nucleotide Polymorphisms within the 8Q24 Region are Not Associated with the Risk of Intraductal Papillary Mucinous Neoplasms of the Pancreas.

2016 · Panic N, Larghi A, Amore R et al.

4

Association of 8q23-24 region (8q23.3 loci and 8q24.21 loci) with susceptibility to colorectal cancer: a systematic and updated meta-analysis.

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Association of 8q23-24 region (8q23.3 loci and 8q24.21 loci) with susceptibility to colorectal cancer: a systematic and updated meta-analysis.

2015 · Li L, Lv L, Liang Y et al.

5

Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results.

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Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results.

2015 · Yao K, Hua L, Wei L et al.

6

A genome-wide pleiotropy scan for prostate cancer risk.

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A genome-wide pleiotropy scan for prostate cancer risk.

2015 · Panagiotou OA, Travis RC, Campa D et al.

7

Colorectal cancer susceptibility variants alter risk of breast cancer in a Chinese Han population.

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Colorectal cancer susceptibility variants alter risk of breast cancer in a Chinese Han population.

2013 · Wei W, Jiang M, Luo L et al.

8

Single-nucleotide polymorphism associations for colorectal cancer in southern chinese population.

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Single-nucleotide polymorphism associations for colorectal cancer in southern chinese population.

2012 · Li FX, Yang XX, Hu NY et al.

9

Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.

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Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.

2012 · Hoskins JM, Ong PS, Keku TO et al.

10

Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome.

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Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome.

2011 · Talseth-Palmer BA, Brenne IS, Ashton KA et al.

11

Genetic heterogeneity in colorectal cancer associations between African and European americans.

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Genetic heterogeneity in colorectal cancer associations between African and European americans.

2010 · Kupfer SS, Anderson JR, Hooker S et al.

12

Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample.

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PID
Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample.

2009 · Schafmayer C, Buch S, Völzke H et al.

13

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

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PID
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

2008 · Tenesa A, Farrington SM, Prendergast JG et al.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0 ▼

No unused studies.