rs1277769

Homo sapiens
C>A
CACNB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0144 (4320/29958,GnomAD)
C==0142 (4152/29118,TOPMED)
C==0201 (1006/5008,1000G)
C==0093 (359/3854,ALSPAC)
C==0091 (337/3708,TWINSUK)
chr10:18210865 (GRCh38.p7) (10p12.33)
ND
GWASdb2
1   publication(s)
See rs on genome
57 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.18210865C>A
GRCh37.p13 chr 10NC_000010.10:g.18499794C>A
CACNB2 RefSeqGeneNG_016195.1:g.75189C>A

Gene: CACNB2, calcium voltage-gated channel auxiliary subunit beta 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CACNB2 transcript variant 9NM_001167945.1:c.N/AIntron Variant
CACNB2 transcript variant 6NM_201571.3:c.N/AIntron Variant
CACNB2 transcript variant 8NM_201572.3:c.N/AIntron Variant
CACNB2 transcript variant 5NM_201593.2:c.N/AIntron Variant
CACNB2 transcript variant 2NM_201596.2:c.N/AIntron Variant
CACNB2 transcript variant 4NM_201597.2:c.N/AIntron Variant
CACNB2 transcript variant 1NM_000724.3:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant 7NM_201570.2:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant 3NM_201590.2:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X3XM_005252588.3:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X5XM_005252591.3:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X1XM_006717502.3:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X2XM_011519659.2:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X4XM_011519660.2:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X4XM_017016625.1:c.N/AGenic Upstream Transcript Variant
CACNB2 transcript variant X6XR_001747198.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.199A=0.801
1000GenomesAmericanSub694C=0.120A=0.880
1000GenomesEast AsianSub1008C=0.325A=0.675
1000GenomesEuropeSub1006C=0.120A=0.880
1000GenomesGlobalStudy-wide5008C=0.201A=0.799
1000GenomesSouth AsianSub978C=0.220A=0.780
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.093A=0.907
The Genome Aggregation DatabaseAfricanSub8714C=0.167A=0.833
The Genome Aggregation DatabaseAmericanSub838C=0.120A=0.880
The Genome Aggregation DatabaseEast AsianSub1614C=0.361A=0.639
The Genome Aggregation DatabaseEuropeSub18490C=0.115A=0.884
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.144A=0.855
The Genome Aggregation DatabaseOtherSub302C=0.170A=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.142A=0.857
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.091A=0.909
PMID Title Author Journal
23643383Genome-wide association analysis for multiple continuous secondary phenotypes.Schifano EDAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs12777696.79E-06nicotine dependence (smoking)23643383

eQTL of rs1277769 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1277769 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr101846853018469268E067-30526
chr101846929918469510E067-30284
chr101847436818474524E067-25270
chr101850372518504336E0673931
chr101854896918549019E06749175
chr101854904118549106E06749247
chr101854921318549263E06749419
chr101846689918467045E068-32749
chr101846709018467292E068-32502
chr101846749518467539E068-32255
chr101846757918467994E068-31800
chr101846800318468127E068-31667
chr101846823518468369E068-31425
chr101850372518504336E0683931
chr101850813118508564E0688337
chr101854896918549019E06849175
chr101854904118549106E06849247
chr101854921318549263E06849419
chr101846853018469268E069-30526
chr101846929918469510E069-30284
chr101846709018467292E071-32502
chr101846749518467539E071-32255
chr101846757918467994E071-31800
chr101850372518504336E0713931
chr101846823518468369E072-31425
chr101846853018469268E072-30526
chr101846929918469510E072-30284
chr101847456018474943E072-24851
chr101846823518468369E073-31425
chr101846853018469268E073-30526
chr101846929918469510E073-30284
chr101850372518504336E0733931
chr101846853018469268E074-30526
chr101846929918469510E074-30284
chr101848440018484617E074-15177
chr101848464418484692E074-15102
chr101848471018484815E074-14979
chr101845264618454285E081-45509
chr101845430018454394E081-45400
chr101846757918467994E081-31800
chr101846800318468127E081-31667
chr101846823518468369E081-31425
chr101846853018469268E081-30526
chr101846929918469510E081-30284
chr101846960018469676E081-30118
chr101848440018484617E081-15177
chr101848464418484692E081-15102
chr101848471018484815E081-14979
chr101849349418493862E081-5932
chr101850372518504336E0813931
chr101850538718505447E0815593
chr101845430018454394E082-45400
chr101846757918467994E082-31800
chr101846800318468127E082-31667
chr101846823518468369E082-31425
chr101846853018469268E082-30526
chr101846929918469510E082-30284