rs11080131

Homo sapiens
T>G
WSB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0301 (9016/29928,GnomAD)
G=0305 (8902/29118,TOPMED)
G=0298 (1492/5008,1000G)
G=0364 (1402/3854,ALSPAC)
G=0375 (1392/3708,TWINSUK)
chr17:27309928 (GRCh38.p7) (17q11.1)
AD
GWASdb2
1   publication(s)
See rs on genome
184 Enhancers around
66 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.27309928T>G
GRCh37.p13 chr 17NC_000017.10:g.25636954T>G

Gene: WSB1, WD repeat and SOCS box containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
WSB1 transcript variant 1NM_015626.8:c.N/AIntron Variant
WSB1 transcript variant 2NM_134265.2:c.N/AIntron Variant
WSB1 transcript variant X3XM_005257963.3:c.N/AIntron Variant
WSB1 transcript variant X1XM_017024433.1:c.N/AIntron Variant
WSB1 transcript variant X1XM_017024434.1:c.N/AIntron Variant
WSB1 transcript variant X7XM_017024435.1:c.N/AIntron Variant
WSB1 transcript variant X8XM_017024436.1:c.N/AIntron Variant
WSB1 transcript variant X3XR_001752468.1:n.N/AIntron Variant
WSB1 transcript variant X5XR_001752469.1:n.N/AIntron Variant
WSB1 transcript variant X4XR_001752470.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.821G=0.179
1000GenomesAmericanSub694T=0.680G=0.320
1000GenomesEast AsianSub1008T=0.743G=0.257
1000GenomesEuropeSub1006T=0.659G=0.341
1000GenomesGlobalStudy-wide5008T=0.702G=0.298
1000GenomesSouth AsianSub978T=0.560G=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.636G=0.364
The Genome Aggregation DatabaseAfricanSub8720T=0.814G=0.186
The Genome Aggregation DatabaseAmericanSub836T=0.640G=0.360
The Genome Aggregation DatabaseEast AsianSub1612T=0.709G=0.291
The Genome Aggregation DatabaseEuropeSub18458T=0.650G=0.349
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.698G=0.301
The Genome Aggregation DatabaseOtherSub302T=0.470G=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.694G=0.305
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.625G=0.375
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
rs110801310.000684alcohol dependence21314694

eQTL of rs11080131 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 rs11080131 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 )
chr172562600025626050E067-10904
chr172562633425626421E067-10533
chr172562643625626724E067-10230
chr172562675125626793E067-10161
chr172562690225626952E067-10002
chr172562699325627157E067-9797
chr172562743225627498E067-9456
chr172562758325627694E067-9260
chr172564658325647565E0679629
chr172565030825651089E06713354
chr172565110625651326E06714152
chr172565132825651410E06714374
chr172566110425661179E06724150
chr172566120525661293E06724251
chr172566130925661420E06724355
chr172566151325661567E06724559
chr172567098725671599E06734033
chr172562393625624040E068-12914
chr172562420925624594E068-12360
chr172562472825624799E068-12155
chr172562497525625025E068-11929
chr172562600025626050E068-10904
chr172562633425626421E068-10533
chr172562643625626724E068-10230
chr172562675125626793E068-10161
chr172562758325627694E068-9260
chr172562777425627868E068-9086
chr172562865125628701E068-8253
chr172562879125628872E068-8082
chr172564658325647565E0689629
chr172565110625651326E06814152
chr172565132825651410E06814374
chr172565146725651507E06814513
chr172565154725651712E06814593
chr172565171525651775E06814761
chr172565833025658902E06821376
chr172566110425661179E06824150
chr172566120525661293E06824251
chr172566130925661420E06824355
chr172566788925668559E06830935
chr172566885925668932E06831905
chr172566897325669090E06832019
chr172567014825670303E06833194
chr172567037525670659E06833421
chr172567088925670969E06833935
chr172567098725671599E06834033
chr172567912925679424E06842175
chr172567945225679791E06842498
chr172561331725613430E069-23524
chr172562393625624040E069-12914
chr172562633425626421E069-10533
chr172562643625626724E069-10230
chr172562879125628872E069-8082
chr172562889825628948E069-8006
chr172562898425629024E069-7930
chr172562903025629074E069-7880
chr172562967525629735E069-7219
chr172564200325643175E0695049
chr172564658325647565E0699629
chr172565030825651089E06913354
chr172565110625651326E06914152
chr172565132825651410E06914374
chr172565833025658902E06921376
chr172566110425661179E06924150
chr172566120525661293E06924251
chr172566130925661420E06924355
chr172566788925668559E06930935
chr172567098725671599E06934033
chr172562472825624799E070-12155
chr172562497525625025E070-11929
chr172562527125625420E070-11534
chr172562546625625536E070-11418
chr172562560025625640E070-11314
chr172562600025626050E070-10904
chr172562633425626421E070-10533
chr172562643625626724E070-10230
chr172562675125626793E070-10161
chr172562690225626952E070-10002
chr172562699325627157E070-9797
chr172566788925668559E07030935
chr172567037525670659E07033421
chr172567088925670969E07033935
chr172567098725671599E07034033
chr172567161825671748E07034664
chr172567183325671900E07034879
chr172561160125611660E071-25294
chr172561199525612083E071-24871
chr172561213625612402E071-24552
chr172561268125612828E071-24126
chr172561286525612935E071-24019
chr172561331725613430E071-23524
chr172562393625624040E071-12914
chr172562420925624594E071-12360
chr172562472825624799E071-12155
chr172562600025626050E071-10904
chr172562633425626421E071-10533
chr172562643625626724E071-10230
chr172562675125626793E071-10161
chr172562690225626952E071-10002
chr172562699325627157E071-9797
chr172562743225627498E071-9456
chr172564658325647565E0719629
chr172565018025650250E07113226
chr172565030825651089E07113354
chr172565110625651326E07114152
chr172565132825651410E07114374
chr172565146725651507E07114513
chr172565154725651712E07114593
chr172565171525651775E07114761
chr172565195025652047E07114996
chr172565833025658902E07121376
chr172566110425661179E07124150
chr172566120525661293E07124251
chr172566130925661420E07124355
chr172566788925668559E07130935
chr172567098725671599E07134033
chr172561199525612083E072-24871
chr172561213625612402E072-24552
chr172564658325647565E0729629
chr172565110625651326E07214152
chr172565132825651410E07214374
chr172566110425661179E07224150
chr172566120525661293E07224251
chr172566130925661420E07224355
chr172566788925668559E07230935
chr172567098725671599E07234033
chr172561985925620048E073-16906
chr172562005025620141E073-16813
chr172562393625624040E073-12914
chr172562420925624594E073-12360
chr172562472825624799E073-12155
chr172562600025626050E073-10904
chr172562633425626421E073-10533
chr172562643625626724E073-10230
chr172564658325647565E0739629
chr172565833025658902E07321376
chr172566089425660991E07323940
chr172566110425661179E07324150
chr172566788925668559E07330935
chr172567088925670969E07333935
chr172567098725671599E07334033
chr172561213625612402E074-24552
chr172561268125612828E074-24126
chr172562393625624040E074-12914
chr172564200325643175E0745049
chr172564658325647565E0749629
chr172565030825651089E07413354
chr172565110625651326E07414152
chr172565833025658902E07421376
chr172566110425661179E07424150
chr172566120525661293E07424251
chr172566130925661420E07424355
chr172566151325661567E07424559
chr172566897325669090E07432019
chr172567098725671599E07434033
chr172562393625624040E081-12914
chr172562420925624594E081-12360
chr172562472825624799E081-12155
chr172562497525625025E081-11929
chr172562527125625420E081-11534
chr172562546625625536E081-11418
chr172562560025625640E081-11314
chr172562633425626421E081-10533
chr172562643625626724E081-10230
chr172562675125626793E081-10161
chr172562903025629074E081-7880
chr172562967525629735E081-7219
chr172564658325647565E0819629
chr172564764225647711E08110688
chr172566089425660991E08123940
chr172566110425661179E08124150
chr172566120525661293E08124251
chr172566130925661420E08124355
chr172566151325661567E08124559
chr172566788925668559E08130935
chr172566885925668932E08131905
chr172566897325669090E08132019
chr172562600025626050E082-10904
chr172562675125626793E082-10161
chr172564658325647565E0829629
chr172564764225647711E08210688
chr172566788925668559E08230935
chr172566885925668932E08231905
chr172566897325669090E08232019










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr172562028925622872E067-14082
chr172562294025623039E067-13915
chr172562310625623872E067-13082
chr172565900125660857E06722047
chr172567579425675890E06738840
chr172568038025681882E06743426
chr172562028925622872E068-14082
chr172562294025623039E068-13915
chr172562310625623872E068-13082
chr172565900125660857E06822047
chr172567201325672833E06835059
chr172567579425675890E06838840
chr172567594325677130E06838989
chr172568038025681882E06843426
chr172562028925622872E069-14082
chr172562294025623039E069-13915
chr172562310625623872E069-13082
chr172565900125660857E06922047
chr172567579425675890E06938840
chr172567594325677130E06938989
chr172568038025681882E06943426
chr172562028925622872E070-14082
chr172562294025623039E070-13915
chr172562310625623872E070-13082
chr172565900125660857E07022047
chr172567579425675890E07038840
chr172567594325677130E07038989
chr172568038025681882E07043426
chr172562028925622872E071-14082
chr172562294025623039E071-13915
chr172562310625623872E071-13082
chr172565900125660857E07122047
chr172567579425675890E07138840
chr172567594325677130E07138989
chr172568038025681882E07143426
chr172562028925622872E072-14082
chr172562294025623039E072-13915
chr172562310625623872E072-13082
chr172565900125660857E07222047
chr172567579425675890E07238840
chr172567594325677130E07238989
chr172568038025681882E07243426
chr172562028925622872E073-14082
chr172562294025623039E073-13915
chr172562310625623872E073-13082
chr172565900125660857E07322047
chr172567579425675890E07338840
chr172567594325677130E07338989
chr172568038025681882E07343426
chr172562028925622872E074-14082
chr172562294025623039E074-13915
chr172562310625623872E074-13082
chr172565900125660857E07422047
chr172567579425675890E07438840
chr172567594325677130E07438989
chr172568038025681882E07443426
chr172562294025623039E081-13915
chr172562310625623872E081-13082
chr172562028925622872E082-14082
chr172562294025623039E082-13915
chr172562310625623872E082-13082
chr172565900125660857E08222047
chr172567201325672833E08235059
chr172567579425675890E08238840
chr172567594325677130E08238989
chr172568038025681882E08243426