rs12932782

Homo sapiens
C>T
LOC400499 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0434 (12995/29908,GnomAD)
T=0397 (11584/29118,TOPMED)
T=0324 (1625/5008,1000G)
C==0410 (1580/3854,ALSPAC)
C==0409 (1518/3708,TWINSUK)
chr16:11450014 (GRCh38.p7) (16p13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
57 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.11450014C>T
GRCh37.p13 chr 16NC_000016.9:g.11543870C>T

Gene: LOC400499, uncharacterized LOC400499(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC400499 transcript variant X1XM_017023929.1:c.N/AIntron Variant
LOC400499 transcript variant X2XM_017023930.1:c.N/AIntron Variant
LOC400499 transcript variant X3XM_017023931.1:c.N/AIntron Variant
LOC400499 transcript variant X4XM_017023932.1:c.N/AIntron Variant
LOC400499 transcript variant X5XM_017023933.1:c.N/AIntron Variant
LOC400499 transcript variant X6XM_017023934.1:c.N/AIntron Variant
LOC400499 transcript variant X7XM_017023935.1:c.N/AIntron Variant
LOC400499 transcript variant X8XM_017023936.1:c.N/AIntron Variant
LOC400499 transcript variant X9XM_017023937.1:c.N/AIntron Variant
LOC400499 transcript variant X10XM_017023938.1:c.N/AIntron Variant
LOC400499 transcript variant X11XM_017023939.1:c.N/AIntron Variant
LOC400499 transcript variant X12XM_017023940.1:c.N/AIntron Variant
LOC400499 transcript variant X13XM_017023941.1:c.N/AIntron Variant
LOC400499 transcript variant X14XM_017023942.1:c.N/AIntron Variant
LOC400499 transcript variant X15XM_017023943.1:c.N/AIntron Variant
LOC400499 transcript variant X16XM_017023944.1:c.N/AIntron Variant
LOC400499 transcript variant X17XM_017023945.1:c.N/AIntron Variant
LOC400499 transcript variant X20XM_017023946.1:c.N/AIntron Variant
LOC400499 transcript variant X21XM_017023947.1:c.N/AIntron Variant
LOC400499 transcript variant X22XM_017023948.1:c.N/AIntron Variant
LOC400499 transcript variant X23XM_017023949.1:c.N/AIntron Variant
LOC400499 transcript variant X18XR_001752082.1:n.N/AIntron Variant
LOC400499 transcript variant X19XR_001752083.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.852T=0.148
1000GenomesAmericanSub694C=0.690T=0.310
1000GenomesEast AsianSub1008C=0.747T=0.253
1000GenomesEuropeSub1006C=0.434T=0.566
1000GenomesGlobalStudy-wide5008C=0.676T=0.324
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.410T=0.590
The Genome Aggregation DatabaseAfricanSub8714C=0.787T=0.213
The Genome Aggregation DatabaseAmericanSub838C=0.700T=0.300
The Genome Aggregation DatabaseEast AsianSub1612C=0.757T=0.243
The Genome Aggregation DatabaseEuropeSub18442C=0.438T=0.561
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.565T=0.434
The Genome Aggregation DatabaseOtherSub302C=0.490T=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.602T=0.397
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.409T=0.591
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs129327829.62E-06alcohol dependence21703634

eQTL of rs12932782 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 rs12932782 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 )
chr161158998511590042E06746115
chr161159024411590317E06746374
chr161159038711592192E06746517
chr161150463411504871E068-38999
chr161150488211504945E068-38925
chr161150500911505293E068-38577
chr161158998511590042E06846115
chr161159024411590317E06846374
chr161159038711592192E06846517
chr161150463411504871E069-38999
chr161150488211504945E069-38925
chr161150500911505293E069-38577
chr161158926611589883E06945396
chr161158998511590042E06946115
chr161159024411590317E06946374
chr161159038711592192E06946517
chr161150463411504871E071-38999
chr161150488211504945E071-38925
chr161150500911505293E071-38577
chr161158912811589227E07145258
chr161158926611589883E07145396
chr161158998511590042E07146115
chr161159024411590317E07146374
chr161159038711592192E07146517
chr161159239811592974E07148528
chr161150463411504871E072-38999
chr161150488211504945E072-38925
chr161150500911505293E072-38577
chr161159038711592192E07246517
chr161150463411504871E073-38999
chr161150488211504945E073-38925
chr161158912811589227E07345258
chr161159024411590317E07346374
chr161159038711592192E07346517
chr161149556411495608E074-48262
chr161149572711495773E074-48097
chr161149583411495890E074-47980
chr161150431111504517E074-39353
chr161150463411504871E074-38999
chr161150488211504945E074-38925
chr161150500911505293E074-38577
chr161150760911507680E074-36190
chr161150773611508270E074-35600
chr161158912811589227E07445258
chr161158926611589883E07445396
chr161158998511590042E07446115
chr161159024411590317E07446374
chr161159038711592192E07446517
chr161159239811592974E07448528
chr161159314411593796E07449274
chr161150879811508978E081-34892
chr161150905311509124E081-34746
chr161152309811523326E081-20544
chr161152367811524091E081-19779
chr161154402811544397E081158
chr161159038711592192E08146517
chr161152309811523326E082-20544