rs6947516

Homo sapiens
G>A
SLC37A3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0155 (4664/29978,GnomAD)
A=0183 (5335/29118,TOPMED)
A=0173 (866/5008,1000G)
A=0099 (381/3854,ALSPAC)
A=0096 (357/3708,TWINSUK)
chr7:140380048 (GRCh38.p7) (7q34)
AD
GWASdb2
1   publication(s)
See rs on genome
77 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.140380048G>A
GRCh37.p13 chr 7NC_000007.13:g.140079848G>A

Gene: SLC37A3, solute carrier family 37 member 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC37A3 transcript variant 3NM_001287498.1:c.N/AIntron Variant
SLC37A3 transcript variant 2NM_032295.3:c.N/AIntron Variant
SLC37A3 transcript variant 1NM_207113.2:c.N/AIntron Variant
SLC37A3 transcript variant X2XM_011516626.2:c.N/AIntron Variant
SLC37A3 transcript variant X3XM_011516627.2:c.N/AIntron Variant
SLC37A3 transcript variant X1XM_017012712.1:c.N/AIntron Variant
SLC37A3 transcript variant X4XM_017012713.1:c.N/AIntron Variant
SLC37A3 transcript variant X5XM_017012714.1:c.N/AIntron Variant
SLC37A3 transcript variant X6XM_017012715.1:c.N/AIntron Variant
SLC37A3 transcript variant X7XM_017012716.1:c.N/AIntron Variant
SLC37A3 transcript variant X8XM_017012717.1:c.N/AIntron Variant
SLC37A3 transcript variant X10XM_017012718.1:c.N/AIntron Variant
SLC37A3 transcript variant X9XR_927543.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.695A=0.305
1000GenomesAmericanSub694G=0.910A=0.090
1000GenomesEast AsianSub1008G=0.897A=0.103
1000GenomesEuropeSub1006G=0.896A=0.104
1000GenomesGlobalStudy-wide5008G=0.827A=0.173
1000GenomesSouth AsianSub978G=0.800A=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.901A=0.099
The Genome Aggregation DatabaseAfricanSub8718G=0.714A=0.286
The Genome Aggregation DatabaseAmericanSub838G=0.930A=0.070
The Genome Aggregation DatabaseEast AsianSub1622G=0.907A=0.093
The Genome Aggregation DatabaseEuropeSub18498G=0.896A=0.103
The Genome Aggregation DatabaseGlobalStudy-wide29978G=0.844A=0.155
The Genome Aggregation DatabaseOtherSub302G=0.840A=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.816A=0.183
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.904A=0.096
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
rs69475160.0000625alcoholismpha002892
rs69475160.000063alcohol dependence20201924

eQTL of rs6947516 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 rs6947516 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 )
chr7140030053140030188E067-49660
chr7140030328140030378E067-49470
chr7140030430140030843E067-49005
chr7140034102140034152E067-45696
chr7140034220140034264E067-45584
chr7140034267140034955E067-44893
chr7140035039140035217E067-44631
chr7140048981140049603E067-30245
chr7140030053140030188E068-49660
chr7140030328140030378E068-49470
chr7140033344140033423E068-46425
chr7140033558140033650E068-46198
chr7140034102140034152E068-45696
chr7140034220140034264E068-45584
chr7140034267140034955E068-44893
chr7140035039140035217E068-44631
chr7140048009140048563E068-31285
chr7140058233140058889E068-20959
chr7140030053140030188E069-49660
chr7140030328140030378E069-49470
chr7140033137140033281E069-46567
chr7140033344140033423E069-46425
chr7140033558140033650E069-46198
chr7140034102140034152E069-45696
chr7140034220140034264E069-45584
chr7140034267140034955E069-44893
chr7140035039140035217E069-44631
chr7140089813140089863E0699965
chr7140089993140090143E06910145
chr7140090194140090327E06910346
chr7140090331140091024E06910483
chr7140030430140030843E070-49005
chr7140031058140031186E070-48662
chr7140048981140049603E070-30245
chr7140030053140030188E071-49660
chr7140030328140030378E071-49470
chr7140033137140033281E071-46567
chr7140033344140033423E071-46425
chr7140033558140033650E071-46198
chr7140034102140034152E071-45696
chr7140034220140034264E071-45584
chr7140034267140034955E071-44893
chr7140035039140035217E071-44631
chr7140035698140035752E071-44096
chr7140089662140089774E0719814
chr7140089813140089863E0719965
chr7140089993140090143E07110145
chr7140090194140090327E07110346
chr7140090331140091024E07110483
chr7140091040140091234E07111192
chr7140091518140091721E07111670
chr7140091738140091904E07111890
chr7140091923140092047E07112075
chr7140096233140096639E07116385
chr7140096710140096798E07116862
chr7140097126140097166E07117278
chr7140034220140034264E072-45584
chr7140034267140034955E072-44893
chr7140035039140035217E072-44631
chr7140035698140035752E072-44096
chr7140030053140030188E073-49660
chr7140030430140030843E073-49005
chr7140048981140049603E073-30245
chr7140085021140085065E0735173
chr7140085068140085300E0735220
chr7140030053140030188E074-49660
chr7140030328140030378E074-49470
chr7140034102140034152E074-45696
chr7140034220140034264E074-45584
chr7140034267140034955E074-44893
chr7140035698140035752E074-44096
chr7140048981140049603E074-30245
chr7140030328140030378E081-49470
chr7140096710140096798E08116862
chr7140030053140030188E082-49660
chr7140030328140030378E082-49470
chr7140030430140030843E082-49005










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7140097350140099043E06717502
chr7140097350140099043E06817502
chr7140097350140099043E06917502
chr7140097246140097331E07017398
chr7140097350140099043E07017502
chr7140097350140099043E07117502
chr7140097350140099043E07217502
chr7140097350140099043E07317502
chr7140097350140099043E07417502
chr7140103457140104903E07423609
chr7140097246140097331E08217398
chr7140097350140099043E08217502