rs6578322

Homo sapiens
T>C
OSBPL5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0133 (4005/29954,GnomAD)
T==0116 (3397/29118,TOPMED)
T==0239 (1196/5008,1000G)
T==0155 (598/3854,ALSPAC)
T==0162 (602/3708,TWINSUK)
chr11:3121800 (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.3121800T>C
GRCh37.p13 chr 11NC_000011.9:g.3143030T>C
OSBPL5 RefSeqGeneNG_009548.1:g.48553A>G

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
1000GenomesAfricanSub1322T=0.023C=0.977
1000GenomesAmericanSub694T=0.240C=0.760
1000GenomesEast AsianSub1008T=0.512C=0.488
1000GenomesEuropeSub1006T=0.144C=0.856
1000GenomesGlobalStudy-wide5008T=0.239C=0.761
1000GenomesSouth AsianSub978T=0.350C=0.650
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.155C=0.845
The Genome Aggregation DatabaseAfricanSub8728T=0.050C=0.950
The Genome Aggregation DatabaseAmericanSub838T=0.240C=0.760
The Genome Aggregation DatabaseEast AsianSub1614T=0.492C=0.508
The Genome Aggregation DatabaseEuropeSub18472T=0.134C=0.865
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.133C=0.866
The Genome Aggregation DatabaseOtherSub302T=0.300C=0.700
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.116C=0.883
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.162C=0.838
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
rs65783220.00071alcohol dependence20201924

eQTL of rs6578322 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 rs6578322 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 )
chr1131167113117692E067-25338
chr1131441443145038E0671114
chr1131450483146254E0672018
chr1131478113148090E0674781
chr1131481113148155E0675081
chr1131518283152492E0678798
chr1131738063173864E06730776
chr1131738943174045E06730864
chr1131740723174301E06731042
chr1131743303174436E06731300
chr1131744493175228E06731419
chr1131752843175876E06732254
chr1131759353175985E06732905
chr1131762513176462E06733221
chr1131764893176657E06733459
chr1131801633180261E06737133
chr1131802853180335E06737255
chr1131803683180449E06737338
chr1131804573180564E06737427
chr1131805693180871E06737539
chr1131831883183263E06740158
chr1131162473116461E068-26569
chr1131166303116675E068-26355
chr1131608293161116E06817799
chr1131738943174045E06830864
chr1131740723174301E06831042
chr1131743303174436E06831300
chr1131744493175228E06831419
chr1131752843175876E06832254
chr1131759353175985E06832905
chr1131762513176462E06833221
chr1131764893176657E06833459
chr1131805693180871E06837539
chr1131831883183263E06840158
chr1131833793183684E06840349
chr1131845543184713E06841524
chr1131441443145038E0691114
chr1131450483146254E0692018
chr1131463033146386E0693273
chr1131478113148090E0694781
chr1131603173160743E06917287
chr1131608293161116E06917799
chr1131611433161193E06918113
chr1131615993161661E06918569
chr1131662553166447E06923225
chr1131664603166647E06923430
chr1131667223166762E06923692
chr1131667953166884E06923765
chr1131689243169051E06925894
chr1131690993169197E06926069
chr1131693263169807E06926296
chr1131712793171471E06928249
chr1131715813171734E06928551
chr1131738063173864E06930776
chr1131738943174045E06930864
chr1131740723174301E06931042
chr1131743303174436E06931300
chr1131744493175228E06931419
chr1131752843175876E06932254
chr1131759353175985E06932905
chr1131762513176462E06933221
chr1131764893176657E06933459
chr1131790463179152E06936016
chr1131803683180449E06937338
chr1131804573180564E06937427
chr1131805693180871E06937539
chr1131831883183263E06940158
chr1131833793183684E06940349
chr1131915183191758E06948488
chr1131438543144085E070824
chr1131441443145038E0701114
chr1131450483146254E0702018
chr1131738943174045E07030864
chr1131740723174301E07031042
chr1131743303174436E07031300
chr1131744493175228E07031419
chr1131752843175876E07032254
chr1131762513176462E07033221
chr1131764893176657E07033459
chr1131768993178107E07033869
chr1131801633180261E07037133
chr1131802853180335E07037255
chr1131803683180449E07037338
chr1131804573180564E07037427
chr1131921863192274E07049156
chr1131166303116675E071-26355
chr1131167113117692E071-25338
chr1131441443145038E0711114
chr1131450483146254E0712018
chr1131463033146386E0713273
chr1131566543156798E07113624
chr1131568683157474E07113838
chr1131574773157742E07114447
chr1131577443158154E07114714
chr1131581893158265E07115159
chr1131603173160743E07117287
chr1131608293161116E07117799
chr1131611433161193E07118113
chr1131677003167805E07124670
chr1131678953168002E07124865
chr1131680593168906E07125029
chr1131689243169051E07125894
chr1131690993169197E07126069
chr1131730453173105E07130015
chr1131731303173198E07130100
chr1131732273173267E07130197
chr1131734003173540E07130370
chr1131738063173864E07130776
chr1131738943174045E07130864
chr1131740723174301E07131042
chr1131743303174436E07131300
chr1131744493175228E07131419
chr1131752843175876E07132254
chr1131759353175985E07132905
chr1131762513176462E07133221
chr1131764893176657E07133459
chr1131768993178107E07133869
chr1131783073178559E07135277
chr1131786063178706E07135576
chr1131803683180449E07137338
chr1131804573180564E07137427
chr1131833793183684E07140349
chr1131915183191758E07148488
chr1131438543144085E072824
chr1131441443145038E0721114
chr1131450483146254E0722018
chr1131478113148090E0724781
chr1131481113148155E0725081
chr1131518283152492E0728798
chr1131574773157742E07214447
chr1131603173160743E07217287
chr1131608293161116E07217799
chr1131611433161193E07218113
chr1131662553166447E07223225
chr1131664603166647E07223430
chr1131667223166762E07223692
chr1131667953166884E07223765
chr1131669123167033E07223882
chr1131726433172720E07229613
chr1131729043172990E07229874
chr1131730453173105E07230015
chr1131731303173198E07230100
chr1131732273173267E07230197
chr1131734003173540E07230370
chr1131738063173864E07230776
chr1131738943174045E07230864
chr1131740723174301E07231042
chr1131743303174436E07231300
chr1131744493175228E07231419
chr1131752843175876E07232254
chr1131759353175985E07232905
chr1131762513176462E07233221
chr1131764893176657E07233459
chr1131768993178107E07233869
chr1131803683180449E07237338
chr1131804573180564E07237427
chr1131831883183263E07240158
chr1131915183191758E07248488
chr1131438543144085E073824
chr1131441443145038E0731114
chr1131450483146254E0732018
chr1131463033146386E0733273
chr1131615993161661E07318569
chr1131662553166447E07323225
chr1131664603166647E07323430
chr1131667223166762E07323692
chr1131706063170660E07327576
chr1131706983171269E07327668
chr1131712793171471E07328249
chr1131738063173864E07330776
chr1131738943174045E07330864
chr1131740723174301E07331042
chr1131743303174436E07331300
chr1131744493175228E07331419
chr1131752843175876E07332254
chr1131759353175985E07332905
chr1131762513176462E07333221
chr1131764893176657E07333459
chr1131768993178107E07333869
chr1131783073178559E07335277
chr1131786063178706E07335576
chr1131788243178997E07335794
chr1131790463179152E07336016
chr1131801633180261E07337133
chr1131802853180335E07337255
chr1131803683180449E07337338
chr1131804573180564E07337427
chr1131871233188125E07344093
chr1131915183191758E07348488
chr1131450483146254E0742018
chr1131463033146386E0743273
chr1131738943174045E07430864
chr1131740723174301E07431042
chr1131743303174436E07431300
chr1131744493175228E07431419
chr1131752843175876E07432254
chr1131762513176462E07433221
chr1131764893176657E07433459
chr1131803683180449E07437338
chr1131804573180564E07437427
chr1131831883183263E07440158
chr1131839903184316E07440960
chr1131845543184713E07441524
chr1131128323113487E081-29543
chr1131428013142892E081-138
chr1131429233143012E081-18
chr1131430693143119E08139
chr1131432203143270E081190
chr1131435373143757E081507
chr1131438543144085E081824
chr1131441443145038E0811114
chr1131450483146254E0812018
chr1131463033146386E0813273
chr1131515193151609E0818489
chr1131517123151762E0818682
chr1131518283152492E0818798
chr1131537233153803E08110693
chr1131538793154071E08110849
chr1131541803154533E08111150
chr1131548473155064E08111817
chr1131603173160743E08117287
chr1131608293161116E08117799
chr1131712793171471E08128249
chr1131720223172122E08128992
chr1131738063173864E08130776
chr1131738943174045E08130864
chr1131740723174301E08131042
chr1131743303174436E08131300
chr1131744493175228E08131419
chr1131752843175876E08132254
chr1131762513176462E08133221
chr1131764893176657E08133459
chr1131768993178107E08133869
chr1131783073178559E08135277
chr1131803683180449E08137338
chr1131804573180564E08137427
chr1131805693180871E08137539
chr1131831883183263E08140158
chr1131833793183684E08140349
chr1131837113183868E08140681
chr1131839903184316E08140960
chr1131845543184713E08141524
chr1131871233188125E08144093
chr1131881733188469E08145143
chr1131884793188676E08145449
chr1131888323189091E08145802
chr1131893653189685E08146335
chr1131428013142892E082-138
chr1131429233143012E082-18
chr1131430693143119E08239
chr1131432203143270E082190
chr1131435373143757E082507
chr1131438543144085E082824
chr1131450483146254E0822018
chr1131510213151209E0827991
chr1131512303151280E0828200
chr1131513113151450E0828281
chr1131515193151609E0828489
chr1131517123151762E0828682
chr1131518283152492E0828798
chr1131603173160743E08217287
chr1131608293161116E08217799
chr1131611433161193E08218113
chr1131743303174436E08231300
chr1131744493175228E08231419
chr1131752843175876E08232254
chr1131794663179516E08236436
chr1131801633180261E08237133
chr1131802853180335E08237255
chr1131871233188125E08244093
chr1131881733188469E08245143
chr1131884793188676E08245449










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1131847873187101E06741757
chr1131847873187101E06841757
chr1131847873187101E06941757
chr1131847873187101E07041757
chr1131847873187101E07141757
chr1131847873187101E07241757
chr1131847873187101E07341757
chr1131847873187101E07441757
chr1131847873187101E08241757