rs8052094

Homo sapiens
T>C / T>G
RBFOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0250 (7494/29922,GnomAD)
T==0284 (8296/29118,TOPMED)
T==0260 (1303/5008,1000G)
T==0227 (873/3854,ALSPAC)
T==0225 (835/3708,TWINSUK)
chr16:7138545 (GRCh38.p7) (16p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
245 Enhancers around
22 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.7138545T>C
GRCh38.p7 chr 16NC_000016.10:g.7138545T>G
GRCh37.p13 chr 16NC_000016.9:g.7188546T>C
GRCh37.p13 chr 16NC_000016.9:g.7188546T>G
RBFOX1 RefSeqGeneNG_011881.1:g.1124415T>C
RBFOX1 RefSeqGeneNG_011881.1:g.1124415T>G

Gene: RBFOX1, RNA binding protein, fox-1 homolog 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RBFOX1 transcript variant 5NM_001142333.1:c.N/AIntron Variant
RBFOX1 transcript variant 6NM_001142334.1:c.N/AIntron Variant
RBFOX1 transcript variant 7NM_001308117.1:c.N/AIntron Variant
RBFOX1 transcript variant 4NM_018723.3:c.N/AIntron Variant
RBFOX1 transcript variant 1NM_145891.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant 2NM_145892.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant 3NM_145893.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X11XM_005255390.3:c.N/AIntron Variant
RBFOX1 transcript variant X12XM_005255391.3:c.N/AIntron Variant
RBFOX1 transcript variant X1XM_017023318.1:c.N/AIntron Variant
RBFOX1 transcript variant X2XM_017023319.1:c.N/AIntron Variant
RBFOX1 transcript variant X3XM_017023320.1:c.N/AIntron Variant
RBFOX1 transcript variant X4XM_017023321.1:c.N/AIntron Variant
RBFOX1 transcript variant X5XM_017023322.1:c.N/AIntron Variant
RBFOX1 transcript variant X9XM_017023324.1:c.N/AIntron Variant
RBFOX1 transcript variant X13XM_017023325.1:c.N/AIntron Variant
RBFOX1 transcript variant X14XM_017023326.1:c.N/AIntron Variant
RBFOX1 transcript variant X16XM_017023328.1:c.N/AIntron Variant
RBFOX1 transcript variant X18XM_017023329.1:c.N/AIntron Variant
RBFOX1 transcript variant X21XM_017023330.1:c.N/AIntron Variant
RBFOX1 transcript variant X24XM_017023333.1:c.N/AIntron Variant
RBFOX1 transcript variant X26XM_017023335.1:c.N/AIntron Variant
RBFOX1 transcript variant X36XM_017023336.1:c.N/AIntron Variant
RBFOX1 transcript variant X38XM_017023338.1:c.N/AIntron Variant
RBFOX1 transcript variant X41XM_017023340.1:c.N/AIntron Variant
RBFOX1 transcript variant X33XM_017023341.1:c.N/AIntron Variant
RBFOX1 transcript variant X44XM_017023342.1:c.N/AIntron Variant
RBFOX1 transcript variant X6XM_005255386.3:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X8XM_005255387.3:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X10XM_005255388.4:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X28XM_005255394.4:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X18XM_011522546.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X26XM_011522547.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X39XM_011522548.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X7XM_017023323.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X16XM_017023327.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X20XM_017023331.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X23XM_017023332.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X25XM_017023334.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X37XM_017023337.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X30XM_017023339.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X35XM_017023343.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.405C=0.595
1000GenomesAmericanSub694T=0.180C=0.820
1000GenomesEast AsianSub1008T=0.237C=0.763
1000GenomesEuropeSub1006T=0.199C=0.801
1000GenomesGlobalStudy-wide5008T=0.260C=0.740
1000GenomesSouth AsianSub978T=0.210C=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.227C=0.773
The Genome Aggregation DatabaseAfricanSub8696T=0.381C=0.619
The Genome Aggregation DatabaseAmericanSub836T=0.170C=0.830
The Genome Aggregation DatabaseEast AsianSub1610T=0.225C=0.775
The Genome Aggregation DatabaseEuropeSub18478T=0.195C=0.804
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.250C=0.749
The Genome Aggregation DatabaseOtherSub302T=0.220C=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.284C=0.715
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.225C=0.775
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs80520942.72E-05alcohol consumption23743675

eQTL of rs8052094 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 rs8052094 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 )
chr168858872388588773E067-42013
chr168858880388588882E067-41904
chr168858891888589274E067-41512
chr168858960588590122E067-40664
chr168859018488590457E067-40329
chr168860204288602092E067-28694
chr168860213588602229E067-28557
chr168862513688625789E067-4997
chr168862840388628836E067-1950
chr168862884888628952E067-1834
chr168862897488629051E067-1735
chr168863546188635668E0674675
chr168865959388659716E06728807
chr168865974788659804E06728961
chr168865998988660291E06729203
chr168866038388660496E06729597
chr168866088088660974E06730094
chr168866238488662428E06731598
chr168866243388662515E06731647
chr168867840188678546E06747615
chr168858122388581618E068-49168
chr168858831288588695E068-42091
chr168858872388588773E068-42013
chr168858880388588882E068-41904
chr168858891888589274E068-41512
chr168858942288589470E068-41316
chr168858960588590122E068-40664
chr168859018488590457E068-40329
chr168860204288602092E068-28694
chr168860213588602229E068-28557
chr168862513688625789E068-4997
chr168862840388628836E068-1950
chr168862884888628952E068-1834
chr168862897488629051E068-1735
chr168863261288633025E0681826
chr168863313088633200E0682344
chr168863546188635668E0684675
chr168865959388659716E06828807
chr168865974788659804E06828961
chr168865998988660291E06829203
chr168866038388660496E06829597
chr168866088088660974E06830094
chr168866167688661760E06830890
chr168866210488662156E06831318
chr168866238488662428E06831598
chr168866243388662515E06831647
chr168866260788662661E06831821
chr168866294688663277E06832160
chr168858175888581822E069-48964
chr168858831288588695E069-42091
chr168858872388588773E069-42013
chr168858880388588882E069-41904
chr168858891888589274E069-41512
chr168858942288589470E069-41316
chr168858960588590122E069-40664
chr168859018488590457E069-40329
chr168862513688625789E069-4997
chr168863840588638535E0697619
chr168864184688641900E06911060
chr168865800388658529E06927217
chr168865959388659716E06928807
chr168865974788659804E06928961
chr168865998988660291E06929203
chr168866038388660496E06929597
chr168866088088660974E06930094
chr168866167688661760E06930890
chr168866210488662156E06931318
chr168866238488662428E06931598
chr168866243388662515E06931647
chr168866410488664221E06933318
chr168858831288588695E070-42091
chr168858872388588773E070-42013
chr168858891888589274E070-41512
chr168858942288589470E070-41316
chr168858960588590122E070-40664
chr168859018488590457E070-40329
chr168859060788590689E070-40097
chr168859075088590812E070-39974
chr168859091688591164E070-39622
chr168859569788596104E070-34682
chr168859615088596209E070-34577
chr168859624988596409E070-34377
chr168859647788596620E070-34166
chr168859668288596759E070-34027
chr168859677588596999E070-33787
chr168859708588598311E070-32475
chr168860204288602092E070-28694
chr168860213588602229E070-28557
chr168860225488602308E070-28478
chr168860732188607937E070-22849
chr168860833788608521E070-22265
chr168860855988608944E070-21842
chr168863840588638535E0707619
chr168867840188678546E07047615
chr168858122388581618E071-49168
chr168858175888581822E071-48964
chr168858194388581993E071-48793
chr168858831288588695E071-42091
chr168858872388588773E071-42013
chr168858880388588882E071-41904
chr168858891888589274E071-41512
chr168858942288589470E071-41316
chr168858960588590122E071-40664
chr168859018488590457E071-40329
chr168859060788590689E071-40097
chr168859075088590812E071-39974
chr168859091688591164E071-39622
chr168859831288598888E071-31898
chr168860204288602092E071-28694
chr168860213588602229E071-28557
chr168860225488602308E071-28478
chr168860238988602615E071-28171
chr168863546188635668E0714675
chr168863840588638535E0717619
chr168865959388659716E07128807
chr168866088088660974E07130094
chr168866167688661760E07130890
chr168866210488662156E07131318
chr168866238488662428E07131598
chr168866243388662515E07131647
chr168866260788662661E07131821
chr168866294688663277E07132160
chr168866410488664221E07133318
chr168866508788665179E07134301
chr168866640188666445E07135615
chr168866677088666923E07135984
chr168866719388667243E07136407
chr168866725988667334E07136473
chr168868036088680544E07149574
chr168858753588587726E072-43060
chr168858802488588074E072-42712
chr168858831288588695E072-42091
chr168858872388588773E072-42013
chr168858880388588882E072-41904
chr168858891888589274E072-41512
chr168858942288589470E072-41316
chr168858960588590122E072-40664
chr168859018488590457E072-40329
chr168859060788590689E072-40097
chr168859075088590812E072-39974
chr168859091688591164E072-39622
chr168859123888591307E072-39479
chr168859135288591540E072-39246
chr168859324488594699E072-36087
chr168860204288602092E072-28694
chr168860213588602229E072-28557
chr168862513688625789E072-4997
chr168863546188635668E0724675
chr168864637788646460E07215591
chr168864676388646914E07215977
chr168866088088660974E07230094
chr168866640188666445E07235615
chr168866677088666923E07235984
chr168867163188671699E07240845
chr168867193288672025E07241146
chr168867220688672274E07241420
chr168867234588672396E07241559
chr168868036088680544E07249574
chr168858753588587726E073-43060
chr168858802488588074E073-42712
chr168858831288588695E073-42091
chr168858872388588773E073-42013
chr168858880388588882E073-41904
chr168858891888589274E073-41512
chr168858942288589470E073-41316
chr168858960588590122E073-40664
chr168859018488590457E073-40329
chr168859060788590689E073-40097
chr168859075088590812E073-39974
chr168859091688591164E073-39622
chr168859324488594699E073-36087
chr168859831288598888E073-31898
chr168859890788599651E073-31135
chr168860204288602092E073-28694
chr168860213588602229E073-28557
chr168860225488602308E073-28478
chr168860238988602615E073-28171
chr168862513688625789E073-4997
chr168863546188635668E0734675
chr168863840588638535E0737619
chr168865959388659716E07328807
chr168865974788659804E07328961
chr168865998988660291E07329203
chr168866038388660496E07329597
chr168866088088660974E07330094
chr168858831288588695E074-42091
chr168858872388588773E074-42013
chr168858880388588882E074-41904
chr168858891888589274E074-41512
chr168858942288589470E074-41316
chr168858960588590122E074-40664
chr168859324488594699E074-36087
chr168862513688625789E074-4997
chr168862840388628836E074-1950
chr168862884888628952E074-1834
chr168862897488629051E074-1735
chr168865959388659716E07428807
chr168865974788659804E07428961
chr168865998988660291E07429203
chr168866038388660496E07429597
chr168866088088660974E07430094
chr168866167688661760E07430890
chr168866210488662156E07431318
chr168866238488662428E07431598
chr168866243388662515E07431647
chr168866260788662661E07431821
chr168867973888679951E07448952
chr168868011488680164E07449328
chr168868028988680329E07449503
chr168868036088680544E07449574
chr168858960588590122E081-40664
chr168859018488590457E081-40329
chr168859668288596759E081-34027
chr168859677588596999E081-33787
chr168859708588598311E081-32475
chr168859831288598888E081-31898
chr168859890788599651E081-31135
chr168860204288602092E081-28694
chr168860213588602229E081-28557
chr168867146688671541E08140680
chr168867163188671699E08140845
chr168867193288672025E08141146
chr168867220688672274E08141420
chr168867234588672396E08141559
chr168867246488672640E08141678
chr168867269288673220E08141906
chr168867335488673408E08142568
chr168867370888673867E08142922
chr168867387988673980E08143093
chr168858175888581822E082-48964
chr168858194388581993E082-48793
chr168858942288589470E082-41316
chr168858960588590122E082-40664
chr168859324488594699E082-36087
chr168859708588598311E082-32475
chr168860225488602308E082-28478
chr168862840388628836E082-1950
chr168862884888628952E082-1834
chr168862897488629051E082-1735
chr168863840588638535E0827619
chr168867220688672274E08241420
chr168867234588672396E08241559
chr168867246488672640E08241678
chr168867269288673220E08241906
chr168867335488673408E08242568










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168859972088601005E067-29781
chr168863567188637777E0674885
chr168859972088601005E068-29781
chr168863567188637777E0684885
chr168867709488678137E06846308
chr168859972088601005E069-29781
chr168863567188637777E0694885
chr168859972088601005E070-29781
chr168863567188637777E0704885
chr168867709488678137E07046308
chr168859972088601005E071-29781
chr168863567188637777E0714885
chr168859972088601005E072-29781
chr168863567188637777E0724885
chr168859972088601005E073-29781
chr168863567188637777E0734885
chr168859972088601005E074-29781
chr168863567188637777E0744885
chr168863567188637777E0814885
chr168859972088601005E082-29781
chr168863567188637777E0824885
chr168867709488678137E08246308