rs7627732

Homo sapiens
T>C
TBC1D5 : 2KB Upstream Variant
LOC105376975 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0499 (14943/29940,GnomAD)
C=0453 (13218/29118,TOPMED)
T==0429 (2150/5008,1000G)
T==0468 (1802/3854,ALSPAC)
T==0468 (1736/3708,TWINSUK)
chr3:17743326 (GRCh38.p7) (3p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.17743326T>C
GRCh37.p13 chr 3NC_000003.11:g.17784818T>C

Gene: TBC1D5, TBC1 domain family member 5(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
TBC1D5 transcript variant 1NM_001134381.1:c.N/AN/A
TBC1D5 transcript variant 2NM_014744.2:c.N/AN/A
TBC1D5 transcript variant X4XM_005265611.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X12XM_005265612.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X15XM_005265614.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X19XM_005265615.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X22XM_005265616.4:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X3XM_011534281.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X10XM_011534283.2:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X7XM_011534284.2:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X11XM_011534286.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X20XM_011534287.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X1XM_017007552.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X2XM_017007553.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X5XM_017007554.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X7XM_017007555.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X8XM_017007556.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X16XM_017007559.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X17XM_017007560.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X18XM_017007561.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X21XM_017007562.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X24XM_017007564.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X25XM_017007565.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X26XM_017007566.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X27XM_017007567.1:c.N/AUpstream Transcript Variant
TBC1D5 transcript variant X5XM_006713430.1:c.N/AN/A
TBC1D5 transcript variant X10XM_017007557.1:c.N/AN/A
TBC1D5 transcript variant X14XM_017007558.1:c.N/AN/A
TBC1D5 transcript variant X23XM_017007563.1:c.N/AN/A
TBC1D5 transcript variant X12XM_017007568.1:c.N/AN/A

Gene: LOC105376975, uncharacterized LOC105376975(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376975 transcriptNR_135536.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.740C=0.260
1000GenomesAmericanSub694T=0.370C=0.630
1000GenomesEast AsianSub1008T=0.071C=0.929
1000GenomesEuropeSub1006T=0.468C=0.532
1000GenomesGlobalStudy-wide5008T=0.429C=0.571
1000GenomesSouth AsianSub978T=0.380C=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.468C=0.532
The Genome Aggregation DatabaseAfricanSub8708T=0.681C=0.319
The Genome Aggregation DatabaseAmericanSub838T=0.280C=0.720
The Genome Aggregation DatabaseEast AsianSub1620T=0.048C=0.952
The Genome Aggregation DatabaseEuropeSub18472T=0.464C=0.535
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.499C=0.500
The Genome Aggregation DatabaseOtherSub302T=0.400C=0.600
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.546C=0.453
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.468C=0.532
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs76277320.000782alcohol dependence20201924

eQTL of rs7627732 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 rs7627732 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 )
chr31777177817771886E067-12932
chr31777195517772104E067-12714
chr31777216817772239E067-12579
chr31777310917773159E067-11659
chr31778058917780671E067-4147
chr31778070317780808E067-4010
chr31778058917780671E068-4147
chr31778070317780808E068-4010
chr31778698417787044E0682166
chr31779489717795061E06810079
chr31779513717795498E06810319
chr31778698417787044E0692166
chr31780152417801746E07116706
chr31778698417787044E0722166
chr31779461217794870E0729794
chr31779489717795061E07210079
chr31779513717795498E07210319
chr31780152417801746E07216706
chr31778698417787044E0742166






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr31778211517785004E0670
chr31778211517785004E0680
chr31778211517785004E0690
chr31778211517785004E0700
chr31778211517785004E0710
chr31778211517785004E0720
chr31778211517785004E0730
chr31778211517785004E0740
chr31778211517785004E0810
chr31778211517785004E0820