rs1201284

Homo sapiens
G>A / G>T
TBL1XR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0142 (4264/29956,GnomAD)
A=0138 (4044/29118,TOPMED)
A=0189 (947/5008,1000G)
A=0172 (664/3854,ALSPAC)
A=0159 (591/3708,TWINSUK)
chr3:177089526 (GRCh38.p7) (3q26.32)
AD
GWASdb2
1   publication(s)
See rs on genome
63 Enhancers around
60 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.177089526G>A
GRCh38.p7 chr 3NC_000003.12:g.177089526G>T
GRCh37.p13 chr 3NC_000003.11:g.176807314G>A
GRCh37.p13 chr 3NC_000003.11:g.176807314G>T

Gene: TBL1XR1, transducin (beta)-like 1 X-linked receptor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TBL1XR1 transcript variant 2NM_001321193.1:c.N/AIntron Variant
TBL1XR1 transcript variant 3NM_001321194.1:c.N/AIntron Variant
TBL1XR1 transcript variant 4NM_001321195.1:c.N/AIntron Variant
TBL1XR1 transcript variant 1NM_024665.5:c.N/AIntron Variant
TBL1XR1 transcript variant X5XM_005247775.2:c.N/AIntron Variant
TBL1XR1 transcript variant X3XM_006713746.1:c.N/AIntron Variant
TBL1XR1 transcript variant X6XM_011513141.1:c.N/AIntron Variant
TBL1XR1 transcript variant X4XM_011513142.2:c.N/AIntron Variant
TBL1XR1 transcript variant X8XM_011513143.2:c.N/AIntron Variant
TBL1XR1 transcript variant X7XM_017007185.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.887A=0.113
1000GenomesAmericanSub694G=0.860A=0.140
1000GenomesEast AsianSub1008G=0.896A=0.104
1000GenomesEuropeSub1006G=0.840A=0.160
1000GenomesGlobalStudy-wide5008G=0.811A=0.189
1000GenomesSouth AsianSub978G=0.560A=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.828A=0.172
The Genome Aggregation DatabaseAfricanSub8730G=0.892A=0.108
The Genome Aggregation DatabaseAmericanSub838G=0.850A=0.15,
The Genome Aggregation DatabaseEast AsianSub1616G=0.920A=0.080
The Genome Aggregation DatabaseEuropeSub18472G=0.834A=0.165
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.857A=0.142
The Genome Aggregation DatabaseOtherSub300G=0.940A=0.06,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.861A=0.138
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.841A=0.159
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs12012841.76E-05alcohol dependence19581569

eQTL of rs1201284 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:176807314TBL1XR1ENSG00000177565.11G>A8.6206e-3-107947Cerebellum

meQTL of rs1201284 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 )
chr31015996310160013E067-17982
chr31016001710160105E067-17890
chr31016049710160552E067-17443
chr31018601910186267E0678024
chr31021198010212036E06733985
chr31021266810212727E06734673
chr31021273910212981E06734744
chr31022762710227687E06749632
chr31016261410162671E068-15324
chr31018601910186267E0688024
chr31018746510187643E0689470
chr31021511310215283E06837118
chr31021554310216063E06837548
chr31022762710227687E06849632
chr31018601910186267E0698024
chr31021266810212727E06934673
chr31021273910212981E06934744
chr31021511310215283E06937118
chr31021554310216063E06937548
chr31022762710227687E06949632
chr31015996310160013E070-17982
chr31016001710160105E070-17890
chr31020242910202588E07024434
chr31013616510136241E071-41754
chr31018601910186267E0718024
chr31020790210207957E07129907
chr31021266810212727E07134673
chr31021273910212981E07134744
chr31021511310215283E07137118
chr31018601910186267E0728024
chr31018746510187643E0729470
chr31018770910187816E0729714
chr31020745310207508E07229458
chr31020790210207957E07229907
chr31020799710208047E07230002
chr31020806910208119E07230074
chr31020817310208233E07230178
chr31021033310210391E07232338
chr31021266810212727E07234673
chr31021273910212981E07234744
chr31021511310215283E07237118
chr31021554310216063E07237548
chr31022762710227687E07249632
chr31018601910186267E0738024
chr31020790210207957E07329907
chr31020799710208047E07330002
chr31020806910208119E07330074
chr31020817310208233E07330178
chr31021266810212727E07334673
chr31021273910212981E07334744
chr31022762710227687E07349632
chr31018601910186267E0748024
chr31020790210207957E07429907
chr31020799710208047E07430002
chr31020806910208119E07430074
chr31020817310208233E07430178
chr31021198010212036E07433985
chr31021266810212727E07434673
chr31021273910212981E07434744
chr31021511310215283E07437118
chr31021554310216063E07437548
chr31022762710227687E07449632
chr31018601910186267E0818024









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr31015690510158153E067-19842
chr31015815610158319E067-19676
chr31018283910183011E0674844
chr31018302510184053E0675030
chr31018415910184212E0676164
chr31020624610207155E06728251
chr31015690510158153E068-19842
chr31015815610158319E068-19676
chr31018283910183011E0684844
chr31018302510184053E0685030
chr31018415910184212E0686164
chr31020624610207155E06828251
chr31015690510158153E069-19842
chr31015815610158319E069-19676
chr31018283910183011E0694844
chr31018302510184053E0695030
chr31018415910184212E0696164
chr31020624610207155E06928251
chr31020731810207359E06929323
chr31015690510158153E070-19842
chr31015815610158319E070-19676
chr31018283910183011E0704844
chr31018302510184053E0705030
chr31018415910184212E0706164
chr31020624610207155E07028251
chr31015690510158153E071-19842
chr31015815610158319E071-19676
chr31018283910183011E0714844
chr31018302510184053E0715030
chr31018415910184212E0716164
chr31020624610207155E07128251
chr31020731810207359E07129323
chr31015690510158153E072-19842
chr31015815610158319E072-19676
chr31018283910183011E0724844
chr31018302510184053E0725030
chr31018415910184212E0726164
chr31020624610207155E07228251
chr31020731810207359E07229323
chr31015690510158153E073-19842
chr31015815610158319E073-19676
chr31018283910183011E0734844
chr31018302510184053E0735030
chr31018415910184212E0736164
chr31020624610207155E07328251
chr31015690510158153E074-19842
chr31015815610158319E074-19676
chr31018283910183011E0744844
chr31018302510184053E0745030
chr31018415910184212E0746164
chr31020624610207155E07428251
chr31015690510158153E081-19842
chr31015815610158319E081-19676
chr31015690510158153E082-19842
chr31015815610158319E082-19676
chr31018283910183011E0824844
chr31018302510184053E0825030
chr31018415910184212E0826164
chr31020624610207155E08228251
chr31020731810207359E08229323