rs4758533

Homo sapiens
A>G
OSBPL5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0179 (5363/29872,GnomAD)
A==0174 (5066/29118,TOPMED)
A==0272 (1361/5008,1000G)
A==0205 (789/3854,ALSPAC)
A==0209 (775/3708,TWINSUK)
chr11:3128856 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
272 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.3128856A>G
GRCh37.p13 chr 11NC_000011.9:g.3150086A>G
OSBPL5 RefSeqGeneNG_009548.1:g.41497T>C

Gene: OSBPL5, oxysterol binding protein like 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OSBPL5 transcript variant 3NM_001144063.1:c.N/AIntron Variant
OSBPL5 transcript variant 1NM_020896.3:c.N/AIntron Variant
OSBPL5 transcript variant 2NM_145638.2:c.N/AIntron Variant
OSBPL5 transcript variant X2XM_011519873.2:c.N/AIntron Variant
OSBPL5 transcript variant X1XM_017017163.1:c.N/AIntron Variant
OSBPL5 transcript variant X3XM_017017164.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.089G=0.911
1000GenomesAmericanSub694A=0.330G=0.670
1000GenomesEast AsianSub1008A=0.449G=0.551
1000GenomesEuropeSub1006A=0.177G=0.823
1000GenomesGlobalStudy-wide5008A=0.272G=0.728
1000GenomesSouth AsianSub978A=0.390G=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.205G=0.795
The Genome Aggregation DatabaseAfricanSub8708A=0.109G=0.891
The Genome Aggregation DatabaseAmericanSub836A=0.320G=0.680
The Genome Aggregation DatabaseEast AsianSub1614A=0.424G=0.576
The Genome Aggregation DatabaseEuropeSub18412A=0.181G=0.818
The Genome Aggregation DatabaseGlobalStudy-wide29872A=0.179G=0.820
The Genome Aggregation DatabaseOtherSub302A=0.390G=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.174G=0.826
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.209G=0.791
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
rs47585330.000048alcohol dependence20201924
rs47585330.0000482alcoholismpha002892

eQTL of rs4758533 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 rs4758533 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 )
chr1131167113117692E067-32394
chr1131441443145038E067-5048
chr1131450483146254E067-3832
chr1131478113148090E067-1996
chr1131481113148155E067-1931
chr1131518283152492E0671742
chr1131738063173864E06723720
chr1131738943174045E06723808
chr1131740723174301E06723986
chr1131743303174436E06724244
chr1131744493175228E06724363
chr1131752843175876E06725198
chr1131759353175985E06725849
chr1131762513176462E06726165
chr1131764893176657E06726403
chr1131801633180261E06730077
chr1131802853180335E06730199
chr1131803683180449E06730282
chr1131804573180564E06730371
chr1131805693180871E06730483
chr1131831883183263E06733102
chr1131162473116461E068-33625
chr1131166303116675E068-33411
chr1131608293161116E06810743
chr1131738943174045E06823808
chr1131740723174301E06823986
chr1131743303174436E06824244
chr1131744493175228E06824363
chr1131752843175876E06825198
chr1131759353175985E06825849
chr1131762513176462E06826165
chr1131764893176657E06826403
chr1131805693180871E06830483
chr1131831883183263E06833102
chr1131833793183684E06833293
chr1131845543184713E06834468
chr1131441443145038E069-5048
chr1131450483146254E069-3832
chr1131463033146386E069-3700
chr1131478113148090E069-1996
chr1131603173160743E06910231
chr1131608293161116E06910743
chr1131611433161193E06911057
chr1131615993161661E06911513
chr1131662553166447E06916169
chr1131664603166647E06916374
chr1131667223166762E06916636
chr1131667953166884E06916709
chr1131689243169051E06918838
chr1131690993169197E06919013
chr1131693263169807E06919240
chr1131712793171471E06921193
chr1131715813171734E06921495
chr1131738063173864E06923720
chr1131738943174045E06923808
chr1131740723174301E06923986
chr1131743303174436E06924244
chr1131744493175228E06924363
chr1131752843175876E06925198
chr1131759353175985E06925849
chr1131762513176462E06926165
chr1131764893176657E06926403
chr1131790463179152E06928960
chr1131803683180449E06930282
chr1131804573180564E06930371
chr1131805693180871E06930483
chr1131831883183263E06933102
chr1131833793183684E06933293
chr1131915183191758E06941432
chr1131438543144085E070-6001
chr1131441443145038E070-5048
chr1131450483146254E070-3832
chr1131738943174045E07023808
chr1131740723174301E07023986
chr1131743303174436E07024244
chr1131744493175228E07024363
chr1131752843175876E07025198
chr1131762513176462E07026165
chr1131764893176657E07026403
chr1131768993178107E07026813
chr1131801633180261E07030077
chr1131802853180335E07030199
chr1131803683180449E07030282
chr1131804573180564E07030371
chr1131921863192274E07042100
chr1131166303116675E071-33411
chr1131167113117692E071-32394
chr1131441443145038E071-5048
chr1131450483146254E071-3832
chr1131463033146386E071-3700
chr1131566543156798E0716568
chr1131568683157474E0716782
chr1131574773157742E0717391
chr1131577443158154E0717658
chr1131581893158265E0718103
chr1131603173160743E07110231
chr1131608293161116E07110743
chr1131611433161193E07111057
chr1131677003167805E07117614
chr1131678953168002E07117809
chr1131680593168906E07117973
chr1131689243169051E07118838
chr1131690993169197E07119013
chr1131730453173105E07122959
chr1131731303173198E07123044
chr1131732273173267E07123141
chr1131734003173540E07123314
chr1131738063173864E07123720
chr1131738943174045E07123808
chr1131740723174301E07123986
chr1131743303174436E07124244
chr1131744493175228E07124363
chr1131752843175876E07125198
chr1131759353175985E07125849
chr1131762513176462E07126165
chr1131764893176657E07126403
chr1131768993178107E07126813
chr1131783073178559E07128221
chr1131786063178706E07128520
chr1131803683180449E07130282
chr1131804573180564E07130371
chr1131833793183684E07133293
chr1131915183191758E07141432
chr1131438543144085E072-6001
chr1131441443145038E072-5048
chr1131450483146254E072-3832
chr1131478113148090E072-1996
chr1131481113148155E072-1931
chr1131518283152492E0721742
chr1131574773157742E0727391
chr1131603173160743E07210231
chr1131608293161116E07210743
chr1131611433161193E07211057
chr1131662553166447E07216169
chr1131664603166647E07216374
chr1131667223166762E07216636
chr1131667953166884E07216709
chr1131669123167033E07216826
chr1131726433172720E07222557
chr1131729043172990E07222818
chr1131730453173105E07222959
chr1131731303173198E07223044
chr1131732273173267E07223141
chr1131734003173540E07223314
chr1131738063173864E07223720
chr1131738943174045E07223808
chr1131740723174301E07223986
chr1131743303174436E07224244
chr1131744493175228E07224363
chr1131752843175876E07225198
chr1131759353175985E07225849
chr1131762513176462E07226165
chr1131764893176657E07226403
chr1131768993178107E07226813
chr1131803683180449E07230282
chr1131804573180564E07230371
chr1131831883183263E07233102
chr1131915183191758E07241432
chr1131438543144085E073-6001
chr1131441443145038E073-5048
chr1131450483146254E073-3832
chr1131463033146386E073-3700
chr1131615993161661E07311513
chr1131662553166447E07316169
chr1131664603166647E07316374
chr1131667223166762E07316636
chr1131706063170660E07320520
chr1131706983171269E07320612
chr1131712793171471E07321193
chr1131738063173864E07323720
chr1131738943174045E07323808
chr1131740723174301E07323986
chr1131743303174436E07324244
chr1131744493175228E07324363
chr1131752843175876E07325198
chr1131759353175985E07325849
chr1131762513176462E07326165
chr1131764893176657E07326403
chr1131768993178107E07326813
chr1131783073178559E07328221
chr1131786063178706E07328520
chr1131788243178997E07328738
chr1131790463179152E07328960
chr1131801633180261E07330077
chr1131802853180335E07330199
chr1131803683180449E07330282
chr1131804573180564E07330371
chr1131871233188125E07337037
chr1131915183191758E07341432
chr1131450483146254E074-3832
chr1131463033146386E074-3700
chr1131738943174045E07423808
chr1131740723174301E07423986
chr1131743303174436E07424244
chr1131744493175228E07424363
chr1131752843175876E07425198
chr1131762513176462E07426165
chr1131764893176657E07426403
chr1131803683180449E07430282
chr1131804573180564E07430371
chr1131831883183263E07433102
chr1131839903184316E07433904
chr1131845543184713E07434468
chr1131128323113487E081-36599
chr1131428013142892E081-7194
chr1131429233143012E081-7074
chr1131430693143119E081-6967
chr1131432203143270E081-6816
chr1131435373143757E081-6329
chr1131438543144085E081-6001
chr1131441443145038E081-5048
chr1131450483146254E081-3832
chr1131463033146386E081-3700
chr1131515193151609E0811433
chr1131517123151762E0811626
chr1131518283152492E0811742
chr1131537233153803E0813637
chr1131538793154071E0813793
chr1131541803154533E0814094
chr1131548473155064E0814761
chr1131603173160743E08110231
chr1131608293161116E08110743
chr1131712793171471E08121193
chr1131720223172122E08121936
chr1131738063173864E08123720
chr1131738943174045E08123808
chr1131740723174301E08123986
chr1131743303174436E08124244
chr1131744493175228E08124363
chr1131752843175876E08125198
chr1131762513176462E08126165
chr1131764893176657E08126403
chr1131768993178107E08126813
chr1131783073178559E08128221
chr1131803683180449E08130282
chr1131804573180564E08130371
chr1131805693180871E08130483
chr1131831883183263E08133102
chr1131833793183684E08133293
chr1131837113183868E08133625
chr1131839903184316E08133904
chr1131845543184713E08134468
chr1131871233188125E08137037
chr1131881733188469E08138087
chr1131884793188676E08138393
chr1131888323189091E08138746
chr1131893653189685E08139279
chr1131428013142892E082-7194
chr1131429233143012E082-7074
chr1131430693143119E082-6967
chr1131432203143270E082-6816
chr1131435373143757E082-6329
chr1131438543144085E082-6001
chr1131450483146254E082-3832
chr1131510213151209E082935
chr1131512303151280E0821144
chr1131513113151450E0821225
chr1131515193151609E0821433
chr1131517123151762E0821626
chr1131518283152492E0821742
chr1131603173160743E08210231
chr1131608293161116E08210743
chr1131611433161193E08211057
chr1131743303174436E08224244
chr1131744493175228E08224363
chr1131752843175876E08225198
chr1131794663179516E08229380
chr1131801633180261E08230077
chr1131802853180335E08230199
chr1131871233188125E08237037
chr1131881733188469E08238087
chr1131884793188676E08238393










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1131847873187101E06734701
chr1131847873187101E06834701
chr1131847873187101E06934701
chr1131847873187101E07034701
chr1131847873187101E07134701
chr1131847873187101E07234701
chr1131847873187101E07334701
chr1131847873187101E07434701
chr1131847873187101E08234701