What you carry at this position in your DNA and what research says about it.
Breast Cancer Risk: 8/10 evidence, 16 publications.
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Sample genotype (not yours): G/G
Typical Breast Cancer Risk
Carrying two copies of the common G allele is associated with a typical baseline risk for breast cancer and melanoma. This genotype does not carry the elevated risk associated with the T variant.
What this genotype means: Typical baseline risk for breast cancer; Typical baseline risk for melanoma.
Sample genotype (not yours): G/T
Slightly Increased Breast Cancer Risk
Inheriting one copy of the T allele is associated with a slightly elevated risk of breast cancer and melanoma. This variant influences the expression of key cell cycle regulators.
What this genotype means: Slightly increased risk of breast cancer; Slightly increased risk of melanoma.
Sample genotype (not yours): T/T
Increased Breast Cancer Risk
Carrying two copies of the T allele is associated with an increased risk of breast cancer and melanoma. This genotype is linked to reduced expression of a key tumor-regulating gene.
What this genotype means: Increased risk of breast cancer; Increased risk of melanoma.
Gene function and biological role
Gene Function: CDKN2B-AS1 (also known as ANRIL) is a long non-coding RNA gene located on chromosome 9p21. It plays a critical role in regulating cell proliferation, senescence, and the cell cycle by epigenetically modulating nearby tumor suppressor genes like CDKN2A and CDKN2B [1] [2]. Dysregulation of this gene is widely implicated in various cancers and cardiovascular diseases [2]. It acts as a molecular scaffold to recruit chromatin-modifying complexes to silence target genes [2]. This gene is transcribed in the antisense direction relative to the CDKN2B gene [1].
Variant Impact: rs1011970 is an intronic single nucleotide polymorphism located within the CDKN2B-AS1 gene. The T variant allele is associated with altered expression of the ANRIL long non-coding RNA [1]. This molecular change is linked to susceptibility to multiple cancers, including breast cancer and melanoma [1] [2]. Researchers have found that this variant is in high linkage disequilibrium with other potentially causal variants in the 9p21 region that regulate cell cycle control [3]. Understanding this variant helps clarify the genetic architecture of cancer predisposition [2].
Key Insight: Although rs1011970 is strongly linked to breast cancer risk, functional studies suggest it may not be the direct causal variant itself, but rather a marker inherited alongside the true causal change.
Location: CDKN2B-AS1. Chromosome 9 · 9p21.3 · 22.1 Mb
Estimated prevalence by population
Global 60.4%; European 69.2%; African 46.0%; East Asian 82.8%; South Asian 57.4%; Americas 46.1%; Ashkenazi 69.1%; Finnish 66.4%; Middle Eastern 61.0%; Amish 82.8%.
Estimated GG genotype frequency.
Global 33.9%; European 27.9%; African 43.6%; East Asian 16.3%; South Asian 36.7%; Americas 43.6%; Ashkenazi 28.0%; Finnish 30.2%; Middle Eastern 34.2%; Amish 16.4%.
Estimated GT genotype frequency.
Global 5.7%; European 2.8%; African 10.4%; East Asian 0.8%; South Asian 5.9%; Americas 10.3%; Ashkenazi 2.8%; Finnish 3.4%; Middle Eastern 4.8%; Amish 0.8%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 8/10. Source: PMID 29059683. Typical Risk.
Skin Cancer
Melanoma. Evidence: 3/10. Source: PMID 20386740. Typical Risk.
General Cancer Risk
General Cancer Risk. Evidence: 4/10. Source: PMID 27197191. Typical Risk.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 6/10. Source: PMID 36224396. Typical Height.
Showing effects for G/T genotype
Breast Cancer. Evidence: 8/10. Source: PMID 29059683. ~1.07x Risk.
Melanoma. Evidence: 3/10. Source: PMID 20386740. Increased Risk.
General Cancer Risk. Evidence: 4/10. Source: PMID 27197191. Increased Risk.
Height. Evidence: 6/10. Source: PMID 36224396. Slightly Taller.
Showing effects for T/T genotype
Breast Cancer. Evidence: 8/10. Source: PMID 29059683. ~1.14x Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Inheriting the G/G genotype means possessing the most common genetic sequence at this locus. Large-scale genome-wide association studies have consistently shown that individuals with this genotype do not have the elevated risk of breast cancer associated with the T variant [1] [2]. This protective baseline also extends to other malignancies, such as melanoma and lung cancer, which are linked to the alternative allele [3]. The G allele is associated with typical expression levels of the long non-coding RNA ANRIL, which helps maintain normal regulation of cell cycle tumor suppressors [4]. Consequently, there are no elevated genetic risks for these specific conditions driven by this variant. Maintaining standard age-appropriate health screenings remains the recommended approach for overall wellness. Adopting a healthy lifestyle further supports long-term cellular health. Regular physical activity and a balanced diet are beneficial for everyone regardless of genetic status.
Typical baseline risk for breast cancer; Typical baseline risk for melanoma.
Sample genotype: GT (Heterozygous)
Possessing one copy of the T allele is linked to a modest increase in the risk of developing breast cancer, with studies reporting an odds ratio of approximately 1.07 [1] [2]. This genetic variant is located within the CDKN2B-AS1 gene, which produces a long non-coding RNA that regulates crucial tumor suppressors [3]. The T allele is associated with reduced expression of this regulatory RNA, potentially affecting cell cycle control and proliferation [3]. In addition to breast cancer, this variant has been linked to an increased susceptibility to melanoma and several other cancers [4] [5]. While the individual risk increase from this single genetic marker is small, it contributes to overall polygenic risk profiles. Standard lifestyle recommendations and routine clinical screenings are important tools for managing overall health. Discussing these findings with a healthcare provider can help put genetic risk into a broader personal context. Proactive health habits remain the cornerstone of effective cancer prevention strategies.
Slightly increased risk of breast cancer; Slightly increased risk of melanoma.
Sample genotype: TT (Homozygous)
Inheriting two copies of the T allele is associated with the highest relative genetic risk at this locus for breast cancer [1] [2]. This variant is situated within the CDKN2B-AS1 gene, which is responsible for regulating cell senescence and proliferation [3]. The T/T genotype is correlated with significantly reduced expression of the ANRIL long non-coding RNA, which can impair the normal regulation of nearby tumor suppressor genes [3]. Beyond breast cancer, this genotype is also associated with an increased risk of melanoma and other solid tumors [4] [5]. Although having this genotype increases relative risk, it is only one of many genetic and environmental factors that influence overall cancer development. Engaging in regular health checkups and discussing family history with a healthcare provider can help guide personalized wellness strategies. Adopting protective behaviors, such as sun protection and limiting alcohol intake, can mitigate some of these risks. Understanding genetic predispositions empowers individuals to make informed lifestyle choices.
Increased risk of breast cancer; Increased risk of melanoma.
Variants with shared genetic architecture
rs1333049 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs2891168 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs4977574 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
Association analysis identifies 65 new breast cancer risk loci.
Genome-wide associations studies for melanoma and nevi.
Content updated August 2026.
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