rs382571

Homo sapiens
G>A
VAT1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0252 (7547/29940,GnomAD)
G==0275 (8032/29118,TOPMED)
G==0250 (1250/5008,1000G)
G==0182 (703/3854,ALSPAC)
G==0190 (703/3708,TWINSUK)
chr17:43019464 (GRCh38.p7) (17q21.31)
AD
GWASdb2
2   publication(s)
See rs on genome
206 Enhancers around
46 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.43019464G>A
GRCh37.p13 chr 17NC_000017.10:g.41171481G>A

Gene: VAT1, vesicle amine transport 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
VAT1 transcriptNM_006373.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.426A=0.574
1000GenomesAmericanSub694G=0.190A=0.810
1000GenomesEast AsianSub1008G=0.087A=0.913
1000GenomesEuropeSub1006G=0.204A=0.796
1000GenomesGlobalStudy-wide5008G=0.250A=0.750
1000GenomesSouth AsianSub978G=0.270A=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.182A=0.818
The Genome Aggregation DatabaseAfricanSub8712G=0.389A=0.611
The Genome Aggregation DatabaseAmericanSub838G=0.140A=0.860
The Genome Aggregation DatabaseEast AsianSub1618G=0.083A=0.917
The Genome Aggregation DatabaseEuropeSub18470G=0.208A=0.791
The Genome Aggregation DatabaseGlobalStudy-wide29940G=0.252A=0.747
The Genome Aggregation DatabaseOtherSub302G=0.170A=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.275A=0.724
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.190A=0.810
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
21597964Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.Im KMHum Genet

P-Value

SNP ID p-value Traits Study
rs3825712.9E-05alcohol consumption23953852

eQTL of rs382571 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Cerebellum
Chr17:41171481NBR1ENSG00000188554.9G>A5.5875e-15-151017Cerebellum
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Frontal_Cortex_BA9
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Hypothalamus
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Cortex
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Cerebellar_Hemisphere
Chr17:41171481NBR1ENSG00000188554.9G>A4.9078e-10-151017Cerebellar_Hemisphere
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Caudate_basal_ganglia
Chr17:41171481NBR2ENSG00000198496.6G>A4.0780e-25-106146Brain_Spinal_cord_cervical
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Hippocampus
Chr17:41171481NBR2ENSG00000198496.6G>A4.2072e-20-106146Substantia_nigra
Chr17:41171481NBR2ENSG00000198496.6G>A2.7000e-27-106146Putamen_basal_ganglia
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Anterior_cingulate_cortex
Chr17:41171481NBR2ENSG00000198496.6G>A0.0000e+0-106146Nucleus_accumbens_basal_ganglia
Chr17:41171481NBR2ENSG00000198496.6G>A4.6485e-22-106146Amygdala

meQTL of rs382571 in Fetal Brain

Probe ID Position Gene beta p-value
cg23758822chr17:414379820.1151471336673331.3488e-10

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 )
chr174115174641151797E067-19684
chr174115950141159612E067-11869
chr174118215941182246E06710678
chr174118225041182300E06710769
chr174118237241182504E06710891
chr174118606341186960E06714582
chr174118699741187203E06715516
chr174118797241188034E06716491
chr174122101341221266E06749532
chr174122133841221382E06749857
chr174113111741131371E068-40110
chr174113456941134645E068-36836
chr174113835141138503E068-32978
chr174114284941143008E068-28473
chr174114302141143178E068-28303
chr174115174641151797E068-19684
chr174116364341164250E068-7231
chr174116660641167197E068-4284
chr174116720841168256E068-3225
chr174116831441168440E068-3041
chr174116984041169970E068-1511
chr174118143841181587E0689957
chr174118181141181918E06810330
chr174118194641182072E06810465
chr174118215941182246E06810678
chr174118225041182300E06810769
chr174118237241182504E06810891
chr174118574741185985E06814266
chr174118606341186960E06814582
chr174118699741187203E06815516
chr174118733241187384E06815851
chr174118756941187619E06816088
chr174118777141187839E06816290
chr174118797241188034E06816491
chr174118831541188637E06816834
chr174118867941188852E06817198
chr174122101341221266E06849532
chr174122133841221382E06849857
chr174113423841134288E069-37193
chr174113429841134355E069-37126
chr174113437941134516E069-36965
chr174113835141138503E069-32978
chr174113890541138951E069-32530
chr174115174641151797E069-19684
chr174117007141170259E069-1222
chr174117027741171365E069-116
chr174118194641182072E06910465
chr174118215941182246E06910678
chr174118225041182300E06910769
chr174118237241182504E06910891
chr174118606341186960E06914582
chr174118699741187203E06915516
chr174118733241187384E06915851
chr174118756941187619E06916088
chr174118777141187839E06916290
chr174118797241188034E06916491
chr174118831541188637E06916834
chr174118867941188852E06917198
chr174113111741131371E070-40110
chr174113409641134191E070-37290
chr174115180841152113E070-19368
chr174116502441165130E070-6351
chr174116517041165214E070-6267
chr174116525541165305E070-6176
chr174116530841165385E070-6096
chr174116547441165754E070-5727
chr174118080341180887E0709322
chr174118143841181587E0709957
chr174118574741185985E07014266
chr174118699741187203E07015516
chr174118733241187384E07015851
chr174118756941187619E07016088
chr174118777141187839E07016290
chr174118797241188034E07016491
chr174118831541188637E07016834
chr174119163141191681E07020150
chr174119179541191845E07020314
chr174119235941192579E07020878
chr174119267541192976E07021194
chr174119365541193730E07022174
chr174119384341194643E07022362
chr174119468941194755E07023208
chr174119484641194906E07023365
chr174113409641134191E071-37290
chr174113423841134288E071-37193
chr174113429841134355E071-37126
chr174113437941134516E071-36965
chr174115174641151797E071-19684
chr174115180841152113E071-19368
chr174115221541152294E071-19187
chr174115239841152455E071-19026
chr174117007141170259E071-1222
chr174117027741171365E071-116
chr174117142041172669E0710
chr174118194641182072E07110465
chr174118215941182246E07110678
chr174118225041182300E07110769
chr174118237241182504E07110891
chr174118606341186960E07114582
chr174118699741187203E07115516
chr174118733241187384E07115851
chr174118756941187619E07116088
chr174118777141187839E07116290
chr174118797241188034E07116491
chr174118867941188852E07117198
chr174113111741131371E072-40110
chr174113409641134191E072-37290
chr174113423841134288E072-37193
chr174113429841134355E072-37126
chr174113437941134516E072-36965
chr174113456941134645E072-36836
chr174115174641151797E072-19684
chr174116720841168256E072-3225
chr174116831441168440E072-3041
chr174116847241168645E072-2836
chr174116866441168744E072-2737
chr174117007141170259E072-1222
chr174117027741171365E072-116
chr174117142041172669E0720
chr174118194641182072E07210465
chr174118215941182246E07210678
chr174118225041182300E07210769
chr174118237241182504E07210891
chr174118606341186960E07214582
chr174118699741187203E07215516
chr174118733241187384E07215851
chr174118756941187619E07216088
chr174118777141187839E07216290
chr174118797241188034E07216491
chr174118831541188637E07216834
chr174113409641134191E073-37290
chr174113423841134288E073-37193
chr174113429841134355E073-37126
chr174113437941134516E073-36965
chr174113456941134645E073-36836
chr174115180841152113E073-19368
chr174116660641167197E073-4284
chr174116720841168256E073-3225
chr174116831441168440E073-3041
chr174116847241168645E073-2836
chr174116984041169970E073-1511
chr174117007141170259E073-1222
chr174117027741171365E073-116
chr174118215941182246E07310678
chr174118225041182300E07310769
chr174118237241182504E07310891
chr174118606341186960E07314582
chr174118699741187203E07315516
chr174118797241188034E07316491
chr174115174641151797E074-19684
chr174115180841152113E074-19368
chr174116547441165754E074-5727
chr174116577241165867E074-5614
chr174116588441165987E074-5494
chr174116603041166568E074-4913
chr174116831441168440E074-3041
chr174117007141170259E074-1222
chr174117027741171365E074-116
chr174117142041172669E0740
chr174118143841181587E0749957
chr174118181141181918E07410330
chr174118194641182072E07410465
chr174118215941182246E07410678
chr174118225041182300E07410769
chr174118237241182504E07410891
chr174118606341186960E07414582
chr174118699741187203E07415516
chr174118733241187384E07415851
chr174118756941187619E07416088
chr174118777141187839E07416290
chr174118797241188034E07416491
chr174118831541188637E07416834
chr174118867941188852E07417198
chr174113409641134191E081-37290
chr174113423841134288E081-37193
chr174113429841134355E081-37126
chr174113437941134516E081-36965
chr174115180841152113E081-19368
chr174117007141170259E081-1222
chr174117027741171365E081-116
chr174117142041172669E0810
chr174118048041180793E0818999
chr174118080341180887E0819322
chr174118143841181587E0819957
chr174118606341186960E08114582
chr174118699741187203E08115516
chr174118733241187384E08115851
chr174118756941187619E08116088
chr174118777141187839E08116290
chr174118797241188034E08116491
chr174118831541188637E08116834
chr174119365541193730E08122174
chr174119384341194643E08122362
chr174113409641134191E082-37290
chr174113423841134288E082-37193
chr174113429841134355E082-37126
chr174113437941134516E082-36965
chr174117007141170259E082-1222
chr174117027741171365E082-116
chr174118541941185632E08213938
chr174118564041185696E08214159
chr174118574741185985E08214266
chr174118606341186960E08214582
chr174118831541188637E08216834
chr174118867941188852E08217198
chr174119384341194643E08222362










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr174113137441133767E067-37714
chr174114895241151189E067-20292
chr174115848841159341E067-12140
chr174117293441174642E0671453
chr174117632741178417E0674846
chr174113137441133767E068-37714
chr174114895241151189E068-20292
chr174115848841159341E068-12140
chr174117293441174642E0681453
chr174117632741178417E0684846
chr174113137441133767E069-37714
chr174114895241151189E069-20292
chr174115848841159341E069-12140
chr174117293441174642E0691453
chr174117632741178417E0694846
chr174113137441133767E070-37714
chr174114895241151189E070-20292
chr174117293441174642E0701453
chr174117632741178417E0704846
chr174113137441133767E071-37714
chr174114895241151189E071-20292
chr174115848841159341E071-12140
chr174117293441174642E0711453
chr174117632741178417E0714846
chr174113137441133767E072-37714
chr174114895241151189E072-20292
chr174115848841159341E072-12140
chr174117293441174642E0721453
chr174117632741178417E0724846
chr174113137441133767E073-37714
chr174114895241151189E073-20292
chr174115848841159341E073-12140
chr174117293441174642E0731453
chr174117632741178417E0734846
chr174113137441133767E074-37714
chr174114895241151189E074-20292
chr174115848841159341E074-12140
chr174117293441174642E0741453
chr174117632741178417E0744846
chr174113137441133767E081-37714
chr174114895241151189E081-20292
chr174117293441174642E0811453
chr174113137441133767E082-37714
chr174114895241151189E082-20292
chr174117293441174642E0821453
chr174117632741178417E0824846