rs4531480

Homo sapiens
T>C
VPS11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0041 (1230/29996,GnomAD)
C=0060 (1759/29118,TOPMED)
C=0045 (223/5008,1000G)
C=0001 (3/3854,ALSPAC)
C=0001 (4/3708,TWINSUK)
chr11:119072889 (GRCh38.p7) (11q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
256 Enhancers around
79 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.119072889T>C
GRCh37.p13 chr 11NC_000011.9:g.118943599T>C
VPS11 RefSeqGeneNG_029670.1:g.10108T>C
GRCh38.p7 chr 11 fix patch HG2217_PATCHNW_009646203.1:g.94488T>C
GRCh37.p13 chr 11 fix patch HG299_PATCHNW_003871076.1:g.94488T>C

Gene: VPS11, VPS11, CORVET/HOPS core subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
VPS11 transcript variant 2NM_001290185.1:c.N/AIntron Variant
VPS11 transcript variant 1NM_021729.5:c.N/AIntron Variant
VPS11 transcript variant X3XM_011542898.1:c.N/AIntron Variant
VPS11 transcript variant X2XM_011542899.2:c.N/AIntron Variant
VPS11 transcript variant X1XR_947859.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.849C=0.151
1000GenomesAmericanSub694T=0.970C=0.030
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.995C=0.005
1000GenomesGlobalStudy-wide5008T=0.955C=0.045
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.999C=0.001
The Genome Aggregation DatabaseAfricanSub8726T=0.862C=0.138
The Genome Aggregation DatabaseAmericanSub838T=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18508T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29996T=0.959C=0.041
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.939C=0.060
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.999C=0.001
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs45314800.000391alcohol dependence21314694

eQTL of rs4531480 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 rs4531480 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 )
chr11118936012118936607E067-6992
chr11118936637118936945E067-6654
chr11118937204118937274E067-6325
chr11118939841118939975E067-3624
chr11118939994118940100E067-3499
chr11118951461118951555E0677862
chr11118951567118951780E0677968
chr11118951889118951941E0678290
chr11118951992118952106E0678393
chr11118952155118952910E0678556
chr11118952931118953025E0679332
chr11118953148118953249E0679549
chr11118953365118953436E0679766
chr11118954998118955132E06711399
chr11118962733118962900E06719134
chr11118962920118963136E06719321
chr11118963175118963742E06719576
chr11118966964118967193E06723365
chr11118974517118974557E06730918
chr11118974583118974743E06730984
chr11118974757118975125E06731158
chr11118980144118980222E06736545
chr11118980270118980320E06736671
chr11118980508118980562E06736909
chr11118980817118980887E06737218
chr11118980888118981050E06737289
chr11118981184118981387E06737585
chr11118921910118921998E068-21601
chr11118939841118939975E068-3624
chr11118939994118940100E068-3499
chr11118940211118940302E068-3297
chr11118951567118951780E0687968
chr11118951889118951941E0688290
chr11118951992118952106E0688393
chr11118952155118952910E0688556
chr11118952931118953025E0689332
chr11118953148118953249E0689549
chr11118953365118953436E0689766
chr11118953777118953817E06810178
chr11118963175118963742E06819576
chr11118966964118967193E06823365
chr11118973706118974178E06830107
chr11118976597118976708E06832998
chr11118976747118976807E06833148
chr11118976859118976937E06833260
chr11118987080118987120E06843481
chr11118987163118987266E06843564
chr11118987382118987491E06843783
chr11118987611118987763E06844012
chr11118987818118987928E06844219
chr11118987991118988060E06844392
chr11118991218118991290E06847619
chr11118926015118926114E069-17485
chr11118926132118926198E069-17401
chr11118926260118926523E069-17076
chr11118935524118935601E069-7998
chr11118935721118935762E069-7837
chr11118936012118936607E069-6992
chr11118936637118936945E069-6654
chr11118937204118937274E069-6325
chr11118951461118951555E0697862
chr11118951567118951780E0697968
chr11118951889118951941E0698290
chr11118951992118952106E0698393
chr11118952155118952910E0698556
chr11118952931118953025E0699332
chr11118953148118953249E0699549
chr11118953365118953436E0699766
chr11118956943118956993E06913344
chr11118962920118963136E06919321
chr11118963175118963742E06919576
chr11118970801118970851E06927202
chr11118973706118974178E06930107
chr11118976597118976708E06932998
chr11118976747118976807E06933148
chr11118976859118976937E06933260
chr11118980144118980222E06936545
chr11118980270118980320E06936671
chr11118980508118980562E06936909
chr11118980817118980887E06937218
chr11118980888118981050E06937289
chr11118991218118991290E06947619
chr11118895165118895347E070-48252
chr11118899046118899841E070-43758
chr11118926260118926523E070-17076
chr11118939841118939975E070-3624
chr11118956943118956993E07013344
chr11118962179118962252E07018580
chr11118973706118974178E07030107
chr11118979973118980056E07036374
chr11118980144118980222E07036545
chr11118980270118980320E07036671
chr11118980508118980562E07036909
chr11118980817118980887E07037218
chr11118980888118981050E07037289
chr11118902272118902750E071-40849
chr11118926015118926114E071-17485
chr11118926132118926198E071-17401
chr11118936637118936945E071-6654
chr11118937204118937274E071-6325
chr11118939841118939975E071-3624
chr11118939994118940100E071-3499
chr11118951461118951555E0717862
chr11118951567118951780E0717968
chr11118951889118951941E0718290
chr11118951992118952106E0718393
chr11118952155118952910E0718556
chr11118952931118953025E0719332
chr11118953148118953249E0719549
chr11118953365118953436E0719766
chr11118953777118953817E07110178
chr11118953954118954004E07110355
chr11118956943118956993E07113344
chr11118963175118963742E07119576
chr11118970801118970851E07127202
chr11118976747118976807E07133148
chr11118976859118976937E07133260
chr11118980144118980222E07136545
chr11118980270118980320E07136671
chr11118980508118980562E07136909
chr11118980817118980887E07137218
chr11118987080118987120E07143481
chr11118987163118987266E07143564
chr11118987382118987491E07143783
chr11118987611118987763E07144012
chr11118987818118987928E07144219
chr11118987991118988060E07144392
chr11118991218118991290E07147619
chr11118925010118925056E072-18543
chr11118925116118925188E072-18411
chr11118925315118925365E072-18234
chr11118925629118925698E072-17901
chr11118925720118925924E072-17675
chr11118926015118926114E072-17485
chr11118926132118926198E072-17401
chr11118926260118926523E072-17076
chr11118951461118951555E0727862
chr11118951567118951780E0727968
chr11118951889118951941E0728290
chr11118951992118952106E0728393
chr11118952155118952910E0728556
chr11118952931118953025E0729332
chr11118953148118953249E0729549
chr11118953365118953436E0729766
chr11118953777118953817E07210178
chr11118973706118974178E07230107
chr11118974517118974557E07230918
chr11118974583118974743E07230984
chr11118974757118975125E07231158
chr11118976747118976807E07233148
chr11118976859118976937E07233260
chr11118980144118980222E07236545
chr11118980270118980320E07236671
chr11118980508118980562E07236909
chr11118980888118981050E07237289
chr11118981184118981387E07237585
chr11118991218118991290E07247619
chr11118895814118896047E073-47552
chr11118896059118896188E073-47411
chr11118898849118898957E073-44642
chr11118925629118925698E073-17901
chr11118925720118925924E073-17675
chr11118926015118926114E073-17485
chr11118926132118926198E073-17401
chr11118926260118926523E073-17076
chr11118936012118936607E073-6992
chr11118939841118939975E073-3624
chr11118939994118940100E073-3499
chr11118940211118940302E073-3297
chr11118940603118940654E073-2945
chr11118940853118940903E073-2696
chr11118940930118941062E073-2537
chr11118941158118941232E073-2367
chr11118942336118942439E073-1160
chr11118942537118942602E073-997
chr11118951567118951780E0737968
chr11118951889118951941E0738290
chr11118951992118952106E0738393
chr11118952155118952910E0738556
chr11118952931118953025E0739332
chr11118953148118953249E0739549
chr11118953365118953436E0739766
chr11118962733118962900E07319134
chr11118962920118963136E07319321
chr11118976597118976708E07332998
chr11118976747118976807E07333148
chr11118976859118976937E07333260
chr11118980270118980320E07336671
chr11118980508118980562E07336909
chr11118984576118984641E07340977
chr11118984650118984720E07341051
chr11118984721118984771E07341122
chr11118937204118937274E074-6325
chr11118939691118939735E074-3864
chr11118939841118939975E074-3624
chr11118939994118940100E074-3499
chr11118940211118940302E074-3297
chr11118951461118951555E0747862
chr11118951567118951780E0747968
chr11118951889118951941E0748290
chr11118951992118952106E0748393
chr11118952155118952910E0748556
chr11118952931118953025E0749332
chr11118953148118953249E0749549
chr11118953365118953436E0749766
chr11118953777118953817E07410178
chr11118953954118954004E07410355
chr11118954052118954092E07410453
chr11118954357118954440E07410758
chr11118954998118955132E07411399
chr11118963175118963742E07419576
chr11118979973118980056E07436374
chr11118980144118980222E07436545
chr11118980270118980320E07436671
chr11118899046118899841E081-43758
chr11118926260118926523E081-17076
chr11118939691118939735E081-3864
chr11118939841118939975E081-3624
chr11118939994118940100E081-3499
chr11118956943118956993E08113344
chr11118961886118962128E08118287
chr11118962179118962252E08118580
chr11118962327118962394E08118728
chr11118962427118962485E08118828
chr11118962606118962677E08119007
chr11118962733118962900E08119134
chr11118962920118963136E08119321
chr11118963175118963742E08119576
chr11118973706118974178E08130107
chr11118979973118980056E08136374
chr11118980144118980222E08136545
chr11118980270118980320E08136671
chr11118980508118980562E08136909
chr11118989295118989346E08145696
chr11118989434118989544E08145835
chr11118990190118990234E08146591
chr11118990555118990628E08146956
chr11118991218118991290E08147619
chr11118899046118899841E082-43758
chr11118939691118939735E082-3864
chr11118939841118939975E082-3624
chr11118939994118940100E082-3499
chr11118940211118940302E082-3297
chr11118954998118955132E08211399
chr11118956943118956993E08213344
chr11118961886118962128E08218287
chr11118962179118962252E08218580
chr11118962327118962394E08218728
chr11118962427118962485E08218828
chr11118962606118962677E08219007
chr11118976597118976708E08232998
chr11118976747118976807E08233148
chr11118976859118976937E08233260
chr11118980144118980222E08236545
chr11118980270118980320E08236671
chr11118991218118991290E08247619










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11118899994118901944E067-41655
chr11118926549118928790E067-14809
chr11118937907118939123E067-4476
chr11118939162118939276E067-4323
chr11118955144118956608E06711545
chr11118964585118966902E06720986
chr11118971440118973591E06727841
chr11118991317118993074E06747718
chr11118899994118901944E068-41655
chr11118926549118928790E068-14809
chr11118937907118939123E068-4476
chr11118939162118939276E068-4323
chr11118955144118956608E06811545
chr11118964585118966902E06820986
chr11118971440118973591E06827841
chr11118991317118993074E06847718
chr11118899994118901944E069-41655
chr11118926549118928790E069-14809
chr11118937907118939123E069-4476
chr11118939162118939276E069-4323
chr11118955144118956608E06911545
chr11118964585118966902E06920986
chr11118971440118973591E06927841
chr11118991317118993074E06947718
chr11118899994118901944E070-41655
chr11118926549118928790E070-14809
chr11118937907118939123E070-4476
chr11118939162118939276E070-4323
chr11118955144118956608E07011545
chr11118964585118966902E07020986
chr11118971440118973591E07027841
chr11118991317118993074E07047718
chr11118899994118901944E071-41655
chr11118926549118928790E071-14809
chr11118937907118939123E071-4476
chr11118939162118939276E071-4323
chr11118955144118956608E07111545
chr11118964585118966902E07120986
chr11118971440118973591E07127841
chr11118991317118993074E07147718
chr11118899994118901944E072-41655
chr11118926549118928790E072-14809
chr11118937907118939123E072-4476
chr11118939162118939276E072-4323
chr11118955144118956608E07211545
chr11118964585118966902E07220986
chr11118971440118973591E07227841
chr11118991317118993074E07247718
chr11118899994118901944E073-41655
chr11118926549118928790E073-14809
chr11118937907118939123E073-4476
chr11118939162118939276E073-4323
chr11118955144118956608E07311545
chr11118964585118966902E07320986
chr11118971440118973591E07327841
chr11118991317118993074E07347718
chr11118899994118901944E074-41655
chr11118926549118928790E074-14809
chr11118937907118939123E074-4476
chr11118939162118939276E074-4323
chr11118955144118956608E07411545
chr11118964585118966902E07420986
chr11118971440118973591E07427841
chr11118991317118993074E07447718
chr11118926549118928790E081-14809
chr11118937907118939123E081-4476
chr11118939162118939276E081-4323
chr11118955144118956608E08111545
chr11118964585118966902E08120986
chr11118971440118973591E08127841
chr11118991317118993074E08147718
chr11118899994118901944E082-41655
chr11118926549118928790E082-14809
chr11118937907118939123E082-4476
chr11118939162118939276E082-4323
chr11118955144118956608E08211545
chr11118964585118966902E08220986
chr11118971440118973591E08227841
chr11118991317118993074E08247718