{{Rsnum
|rsid=2046210
|Chromosome=6
|position=151627231
|Orientation=minus
|GMAF=0.3825
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 47.8 | 46.9 | 5.3
| HCB | 38.7 | 46.7 | 14.6
| JPT | 49.6 | 37.2 | 13.3
| YRI | 10.9 | 41.5 | 47.6
| ASW | 12.5 | 55.4 | 32.1
| CHB | 38.7 | 46.7 | 14.6
| CHD | 44.0 | 41.3 | 14.7
| GIH | 47.5 | 39.6 | 12.9
| LWK | 15.5 | 42.7 | 41.8
| MEX | 60.3 | 32.8 | 6.9
| MKK | 9.6 | 56.4 | 34.0
| TSI | 40.2 | 45.1 | 14.7
| HapMapRevision=28
}}[[rs2046210]] is a SNP upstream of the estrogen receptor alpha [[ESR1]] gene.

A study of ~7,000 [[breast cancer]] cases among Chinese women concluded that [[rs2046210]] was associated with increased risk for the disease; the odds ratio was 1.59 (CI: 1.4-1.82) and 1.36 (CI: 1.24-1.49) for homozygote and heterozygote carriers of a (T) allele (in dbSNP orientation), respectively.{{PMID|19219042|OA=1
}} 

A pooled analysis of 31,000+ women found a positive association for [[rs2046210]] and [[breast cancer]] risk in Chinese women (odds ratio 1.30, CI: 1.22-1.38, and 1.64, CI: 1.50-1.80, for the CT and TT genotypes (in dbSNP orientation), respectively, p(trend) = 1.54 × 10e-30), Japanese women (1.31, CI: 1.13-1.52, and 1.37, CI: 1.06-1.76, p(trend) = 2.51 × 10e-4), and European-ancestry American women (1.07, CI: 0.99-1.16, and 1.18, CI: 1.04-1.34, p(trend) 0.0069). No association with this SNP, however, was observed in African American women.{{PMID|21303983|OA=1
}}

{{omim
|desc=BREAST CANCER
|id=114480
|rsnum=2046210
}}

{{PharmGKB
|RSID=rs2046210
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19219042; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association study identifies a new Breast Cancer susceptibility locus at 6q25.1. (Initial Sample Size: 1,505 Chinese cases, 1,522 Chinese controls; Replication Sample Size: 1,554 Chinese cases, 1,576 Chinese controls); (Region: 6q25.1; Reported Gene(s): C6orf97; Risk Allele: rs2046210-A); (p-value= 0.000000000000002).This variant is associated with Breast Cancer.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739954
}}

{{PMID Auto
|PMID=20661439
|Title=Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus
|OA=1
}}
{{PMID Auto
|PMID=20699374
|Title=Evaluation of Breast Cancer Susceptibility Loci in Chinese Women
|OA=1
}}

{{PharmGKB
|RSID=rs2046210
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19219042
|Annotation=In a genome-wide association study among Chinese women this variant at 6q25.1, located upstream of ESR1, showed strong and consistent association with breast cancer across all three stages.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA163522159
}}
{{PMID Auto
|PMID=21197568
|Title=Risk of genome-wide association study newly identified genetic variants for breast cancer in Chinese women of Heilongjiang Province
}}

{{PMID Auto
|PMID=21272446
|Title=Association of a single nucleotide polymorphism at 6q25.1,rs2046210, with endometrial cancer risk among Chinese women
|OA=1
}}

{{PMID Auto
|PMID=21415360
|Title=Common genetic variants associated with breast cancer in Korean women and differential susceptibility according to intrinsic subtype
}}

{{PMID Auto
|PMID=21445572
|Title=Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
}}

{{PMID Auto
|PMID=21528353
|Title=Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population
}}

{{PMID Auto
|PMID=21791674
|Title=Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
|OA=1
}}

{{PMID Auto
|PMID=22053997
|Title=Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
|OA=1
}}

{{PMID Auto
|PMID=21593217
|Title=Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
|OA=1
}}

{{PMID Auto
|PMID=22452962
|Title=A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study
|OA=1
}}

{{PMID Auto
|PMID=22792352
|Title=Microsatellites in the Estrogen Receptor (ESR1, ESR2) and Androgen Receptor (AR) Genes and Breast Cancer Risk in African American and Nigerian Women
|OA=1
}}

{{PMID Auto
|PMID=20056644
|Title=ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: an Ovarian Cancer Association Consortium study.
|OA=1
}}

{{PMID Auto
|PMID=20085711
|Title=Leveraging genetic variability across populations for the identification of causal variants.
|OA=1
}}

{{PMID Auto
|PMID=20484103
|Title=Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women.
|OA=1
}}

{{PMID Auto
|PMID=21844186
|Title=Common breast cancer susceptibility loci are associated with triple-negative breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=22160591
|Title=A genetic risk predictor for breast cancer using a combination of low-penetrance polymorphisms in a Japanese population.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2046210
|overall_frequency_n=58
|overall_frequency_d=128
|overall_frequency=0.453125
|n_genomes=35
|n_genomes_annotated=0
|n_haplomes=54
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23104177
|Title=Fine-mapping of the 6q25 locus identifies a novel SNP associated with breast cancer risk in African American women
|OA=1
}}

{{PMID Auto
|PMID=23272245
|Title=A Common Polymorphism near the ESR1 Gene Is Associated with Risk of Breast Cancer: Evidence from a Case-Control Study and a Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=22269215
|Title=Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women
|OA=1
}}

{{PMID Auto
|PMID=23486537
|Title=Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations
}}

{{PMID Auto
|PMID=23609471
|Title=Association between a novel polymorphism (rs2046210) of the 6q25.1 locus and breast cancer risk
}}

{{PMID Auto
|PMID=23785413
|Title=Quantitative Assessment of the Association between rs2046210 at 6q25.1 and Breast Cancer Risk
|OA=1
}}

{{PMID Auto
|PMID=23888322
|Title=Single nucleotide polymorphism 6q25.1 rs2046210 and increased risk of breast cancer
}}

{{PMID Auto GWAS
  |PMID=23544013
  |Trait=Breast Cancer in BRCA1 mutation carriers
  |Title=Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
  |RiskAllele=C
  |Pval=5E-9
  |OR=1.28
  |ORtxt=[1.18-1.39]
  |OA=1
}}

{{PMID Auto
|PMID=24289300
|Title=Effects of lifestyle and single nucleotide polymorphisms on breast cancer risk: a case--control study in Japanese women
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23535733
  |Trait=Breast cancer
  |Title=Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
  |RiskAllele=A
  |Pval=5E-16
  |OR=1.15
  |ORtxt=[1.11-1.19]
  |OA=1
}}

{{PMID Auto
|PMID=22965832
|Title=Association of common genetic variants with breast cancer risk and clinicopathological characteristics in a Chinese population.
}}

{{PMID Auto
|PMID=23354978
|Title=Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
}}

{{PMID Auto
|PMID=23577780
|Title=Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery.
}}

{{PMID Auto
|PMID=25116933
|Title=Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}