rs4468331

Homo sapiens
G>A
OSBPL5 : Intron Variant
LOC107987158 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0173 (5187/29912,GnomAD)
G==0161 (4699/29118,TOPMED)
G==0263 (1317/5008,1000G)
G==0179 (688/3854,ALSPAC)
G==0191 (708/3708,TWINSUK)
chr11:3144182 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
271 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.3144182G>A
GRCh37.p13 chr 11NC_000011.9:g.3165412G>A
OSBPL5 RefSeqGeneNG_009548.1:g.26171C>T

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

Gene: LOC107987158, uncharacterized LOC107987158(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107987158 transcript variant X1XM_017018635.1:c.N/AIntron Variant
LOC107987158 transcript variant X3XM_017018636.1:c.N/AIntron Variant
LOC107987158 transcript variant X4XM_017018637.1:c.N/AIntron Variant
LOC107987158 transcript variant X5XM_017018638.1:c.N/AIntron Variant
LOC107987158 transcript variant X2XR_001748096.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.085A=0.915
1000GenomesAmericanSub694G=0.260A=0.740
1000GenomesEast AsianSub1008G=0.447A=0.553
1000GenomesEuropeSub1006G=0.182A=0.818
1000GenomesGlobalStudy-wide5008G=0.263A=0.737
1000GenomesSouth AsianSub978G=0.400A=0.600
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.179A=0.821
The Genome Aggregation DatabaseAfricanSub8694G=0.117A=0.883
The Genome Aggregation DatabaseAmericanSub836G=0.250A=0.750
The Genome Aggregation DatabaseEast AsianSub1618G=0.432A=0.568
The Genome Aggregation DatabaseEuropeSub18462G=0.171A=0.828
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.173A=0.826
The Genome Aggregation DatabaseOtherSub302G=0.320A=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.161A=0.838
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.191A=0.809
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
rs44683310.00069alcohol dependence20201924

eQTL of rs4468331 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 rs4468331 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 )
chr1131167113117692E067-47720
chr1131441443145038E067-20374
chr1131450483146254E067-19158
chr1131478113148090E067-17322
chr1131481113148155E067-17257
chr1131518283152492E067-12920
chr1131738063173864E0678394
chr1131738943174045E0678482
chr1131740723174301E0678660
chr1131743303174436E0678918
chr1131744493175228E0679037
chr1131752843175876E0679872
chr1131759353175985E06710523
chr1131762513176462E06710839
chr1131764893176657E06711077
chr1131801633180261E06714751
chr1131802853180335E06714873
chr1131803683180449E06714956
chr1131804573180564E06715045
chr1131805693180871E06715157
chr1131831883183263E06717776
chr1131162473116461E068-48951
chr1131166303116675E068-48737
chr1131608293161116E068-4296
chr1131738943174045E0688482
chr1131740723174301E0688660
chr1131743303174436E0688918
chr1131744493175228E0689037
chr1131752843175876E0689872
chr1131759353175985E06810523
chr1131762513176462E06810839
chr1131764893176657E06811077
chr1131805693180871E06815157
chr1131831883183263E06817776
chr1131833793183684E06817967
chr1131845543184713E06819142
chr1131441443145038E069-20374
chr1131450483146254E069-19158
chr1131463033146386E069-19026
chr1131478113148090E069-17322
chr1131603173160743E069-4669
chr1131608293161116E069-4296
chr1131611433161193E069-4219
chr1131615993161661E069-3751
chr1131662553166447E069843
chr1131664603166647E0691048
chr1131667223166762E0691310
chr1131667953166884E0691383
chr1131689243169051E0693512
chr1131690993169197E0693687
chr1131693263169807E0693914
chr1131712793171471E0695867
chr1131715813171734E0696169
chr1131738063173864E0698394
chr1131738943174045E0698482
chr1131740723174301E0698660
chr1131743303174436E0698918
chr1131744493175228E0699037
chr1131752843175876E0699872
chr1131759353175985E06910523
chr1131762513176462E06910839
chr1131764893176657E06911077
chr1131790463179152E06913634
chr1131803683180449E06914956
chr1131804573180564E06915045
chr1131805693180871E06915157
chr1131831883183263E06917776
chr1131833793183684E06917967
chr1131915183191758E06926106
chr1131438543144085E070-21327
chr1131441443145038E070-20374
chr1131450483146254E070-19158
chr1131738943174045E0708482
chr1131740723174301E0708660
chr1131743303174436E0708918
chr1131744493175228E0709037
chr1131752843175876E0709872
chr1131762513176462E07010839
chr1131764893176657E07011077
chr1131768993178107E07011487
chr1131801633180261E07014751
chr1131802853180335E07014873
chr1131803683180449E07014956
chr1131804573180564E07015045
chr1131921863192274E07026774
chr1131166303116675E071-48737
chr1131167113117692E071-47720
chr1131441443145038E071-20374
chr1131450483146254E071-19158
chr1131463033146386E071-19026
chr1131566543156798E071-8614
chr1131568683157474E071-7938
chr1131574773157742E071-7670
chr1131577443158154E071-7258
chr1131581893158265E071-7147
chr1131603173160743E071-4669
chr1131608293161116E071-4296
chr1131611433161193E071-4219
chr1131677003167805E0712288
chr1131678953168002E0712483
chr1131680593168906E0712647
chr1131689243169051E0713512
chr1131690993169197E0713687
chr1131730453173105E0717633
chr1131731303173198E0717718
chr1131732273173267E0717815
chr1131734003173540E0717988
chr1131738063173864E0718394
chr1131738943174045E0718482
chr1131740723174301E0718660
chr1131743303174436E0718918
chr1131744493175228E0719037
chr1131752843175876E0719872
chr1131759353175985E07110523
chr1131762513176462E07110839
chr1131764893176657E07111077
chr1131768993178107E07111487
chr1131783073178559E07112895
chr1131786063178706E07113194
chr1131803683180449E07114956
chr1131804573180564E07115045
chr1131833793183684E07117967
chr1131915183191758E07126106
chr1131438543144085E072-21327
chr1131441443145038E072-20374
chr1131450483146254E072-19158
chr1131478113148090E072-17322
chr1131481113148155E072-17257
chr1131518283152492E072-12920
chr1131574773157742E072-7670
chr1131603173160743E072-4669
chr1131608293161116E072-4296
chr1131611433161193E072-4219
chr1131662553166447E072843
chr1131664603166647E0721048
chr1131667223166762E0721310
chr1131667953166884E0721383
chr1131669123167033E0721500
chr1131726433172720E0727231
chr1131729043172990E0727492
chr1131730453173105E0727633
chr1131731303173198E0727718
chr1131732273173267E0727815
chr1131734003173540E0727988
chr1131738063173864E0728394
chr1131738943174045E0728482
chr1131740723174301E0728660
chr1131743303174436E0728918
chr1131744493175228E0729037
chr1131752843175876E0729872
chr1131759353175985E07210523
chr1131762513176462E07210839
chr1131764893176657E07211077
chr1131768993178107E07211487
chr1131803683180449E07214956
chr1131804573180564E07215045
chr1131831883183263E07217776
chr1131915183191758E07226106
chr1131438543144085E073-21327
chr1131441443145038E073-20374
chr1131450483146254E073-19158
chr1131463033146386E073-19026
chr1131615993161661E073-3751
chr1131662553166447E073843
chr1131664603166647E0731048
chr1131667223166762E0731310
chr1131706063170660E0735194
chr1131706983171269E0735286
chr1131712793171471E0735867
chr1131738063173864E0738394
chr1131738943174045E0738482
chr1131740723174301E0738660
chr1131743303174436E0738918
chr1131744493175228E0739037
chr1131752843175876E0739872
chr1131759353175985E07310523
chr1131762513176462E07310839
chr1131764893176657E07311077
chr1131768993178107E07311487
chr1131783073178559E07312895
chr1131786063178706E07313194
chr1131788243178997E07313412
chr1131790463179152E07313634
chr1131801633180261E07314751
chr1131802853180335E07314873
chr1131803683180449E07314956
chr1131804573180564E07315045
chr1131871233188125E07321711
chr1131915183191758E07326106
chr1131450483146254E074-19158
chr1131463033146386E074-19026
chr1131738943174045E0748482
chr1131740723174301E0748660
chr1131743303174436E0748918
chr1131744493175228E0749037
chr1131752843175876E0749872
chr1131762513176462E07410839
chr1131764893176657E07411077
chr1131803683180449E07414956
chr1131804573180564E07415045
chr1131831883183263E07417776
chr1131839903184316E07418578
chr1131845543184713E07419142
chr1131428013142892E081-22520
chr1131429233143012E081-22400
chr1131430693143119E081-22293
chr1131432203143270E081-22142
chr1131435373143757E081-21655
chr1131438543144085E081-21327
chr1131441443145038E081-20374
chr1131450483146254E081-19158
chr1131463033146386E081-19026
chr1131515193151609E081-13803
chr1131517123151762E081-13650
chr1131518283152492E081-12920
chr1131537233153803E081-11609
chr1131538793154071E081-11341
chr1131541803154533E081-10879
chr1131548473155064E081-10348
chr1131603173160743E081-4669
chr1131608293161116E081-4296
chr1131712793171471E0815867
chr1131720223172122E0816610
chr1131738063173864E0818394
chr1131738943174045E0818482
chr1131740723174301E0818660
chr1131743303174436E0818918
chr1131744493175228E0819037
chr1131752843175876E0819872
chr1131762513176462E08110839
chr1131764893176657E08111077
chr1131768993178107E08111487
chr1131783073178559E08112895
chr1131803683180449E08114956
chr1131804573180564E08115045
chr1131805693180871E08115157
chr1131831883183263E08117776
chr1131833793183684E08117967
chr1131837113183868E08118299
chr1131839903184316E08118578
chr1131845543184713E08119142
chr1131871233188125E08121711
chr1131881733188469E08122761
chr1131884793188676E08123067
chr1131888323189091E08123420
chr1131893653189685E08123953
chr1131428013142892E082-22520
chr1131429233143012E082-22400
chr1131430693143119E082-22293
chr1131432203143270E082-22142
chr1131435373143757E082-21655
chr1131438543144085E082-21327
chr1131450483146254E082-19158
chr1131510213151209E082-14203
chr1131512303151280E082-14132
chr1131513113151450E082-13962
chr1131515193151609E082-13803
chr1131517123151762E082-13650
chr1131518283152492E082-12920
chr1131603173160743E082-4669
chr1131608293161116E082-4296
chr1131611433161193E082-4219
chr1131743303174436E0828918
chr1131744493175228E0829037
chr1131752843175876E0829872
chr1131794663179516E08214054
chr1131801633180261E08214751
chr1131802853180335E08214873
chr1131871233188125E08221711
chr1131881733188469E08222761
chr1131884793188676E08223067










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1131847873187101E06719375
chr1131847873187101E06819375
chr1131847873187101E06919375
chr1131847873187101E07019375
chr1131847873187101E07119375
chr1131847873187101E07219375
chr1131847873187101E07319375
chr1131847873187101E07419375
chr1131847873187101E08219375