rs7928758

Homo sapiens
T>G
B3GAT1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0167 (5013/29912,GnomAD)
G=0163 (4773/29118,TOPMED)
G=0122 (611/5008,1000G)
G=0157 (604/3854,ALSPAC)
G=0157 (584/3708,TWINSUK)
chr11:134396073 (GRCh38.p7) (11q25)
AD
GWASdb2 | GWASCatalog
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.134396073T>G
GRCh37.p13 chr 11NC_000011.9:g.134265967T>G

Gene: B3GAT1, beta-1,3-glucuronyltransferase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
B3GAT1 transcript variant 1NM_018644.3:c.N/AIntron Variant
B3GAT1 transcript variant 2NM_054025.2:c.N/AIntron Variant
B3GAT1 transcript variant X3XM_005271506.3:c.N/AIntron Variant
B3GAT1 transcript variant X2XM_011542751.2:c.N/AIntron Variant
B3GAT1 transcript variant X6XM_011542753.2:c.N/AIntron Variant
B3GAT1 transcript variant X4XM_017017551.1:c.N/AIntron Variant
B3GAT1 transcript variant X1XM_017017550.1:c.N/AGenic Upstream Transcript Variant
B3GAT1 transcript variant X6XM_017017552.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.798G=0.202
1000GenomesAmericanSub694T=0.930G=0.070
1000GenomesEast AsianSub1008T=0.951G=0.049
1000GenomesEuropeSub1006T=0.857G=0.143
1000GenomesGlobalStudy-wide5008T=0.878G=0.122
1000GenomesSouth AsianSub978T=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.843G=0.157
The Genome Aggregation DatabaseAfricanSub8704T=0.795G=0.205
The Genome Aggregation DatabaseAmericanSub836T=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1620T=0.931G=0.069
The Genome Aggregation DatabaseEuropeSub18450T=0.838G=0.161
The Genome Aggregation DatabaseGlobalStudy-wide29912T=0.832G=0.167
The Genome Aggregation DatabaseOtherSub302T=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.836G=0.163
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.843G=0.157
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet
21908519Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.Huffman JEHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs79287580.000003alcohol consumption (maxi-drinks)24277619
rs79287583.00E-06alcohol drinking24277619

eQTL of rs7928758 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 rs7928758 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 )
chr11134234933134234983E067-30984
chr11134234992134235055E067-30912
chr11134235143134235300E067-30667
chr11134243670134243720E067-22247
chr11134243725134243787E067-22180
chr11134254783134254894E067-11073
chr11134254895134254945E067-11022
chr11134255517134255579E067-10388
chr11134255653134255703E067-10264
chr11134255748134255912E067-10055
chr11134255943134256370E067-9597
chr11134256550134256616E067-9351
chr11134256813134257081E067-8886
chr11134257385134257437E067-8530
chr11134257474134257514E067-8453
chr11134263178134263232E067-2735
chr11134263324134263374E067-2593
chr11134264032134264086E067-1881
chr11134264145134264232E067-1735
chr11134264483134264523E067-1444
chr11134264618134264715E067-1252
chr11134264921134265092E067-875
chr11134265615134265665E067-302
chr11134265914134266034E0670
chr11134266229134266279E067262
chr11134266572134266622E067605
chr11134266850134266966E067883
chr11134267681134267735E0671714
chr11134268023134268280E0672056
chr11134268372134268412E0672405
chr11134268621134268743E0672654
chr11134268930134268981E0672963
chr11134269586134269651E0673619
chr11134269753134269841E0673786
chr11134270300134270350E0674333
chr11134270961134271026E0674994
chr11134272017134272173E0676050
chr11134272197134272270E0676230
chr11134272303134272557E0676336
chr11134275625134275683E0679658
chr11134275986134276036E06710019
chr11134279008134279117E06713041
chr11134284320134284441E06718353
chr11134284567134284607E06718600
chr11134284630134284686E06718663
chr11134284719134284961E06718752
chr11134285055134285164E06719088
chr11134285218134285662E06719251
chr11134294706134294809E06728739
chr11134294858134294918E06728891
chr11134295321134295390E06729354
chr11134295830134296394E06729863
chr11134308427134308952E06742460
chr11134311349134311569E06745382
chr11134254895134254945E068-11022
chr11134255517134255579E068-10388
chr11134255653134255703E068-10264
chr11134255748134255912E068-10055
chr11134255943134256370E068-9597
chr11134256550134256616E068-9351
chr11134256813134257081E068-8886
chr11134264032134264086E068-1881
chr11134264145134264232E068-1735
chr11134264483134264523E068-1444
chr11134265914134266034E0680
chr11134266229134266279E068262
chr11134266572134266622E068605
chr11134266850134266966E068883
chr11134267681134267735E0681714
chr11134268023134268280E0682056
chr11134268372134268412E0682405
chr11134268621134268743E0682654
chr11134268930134268981E0682963
chr11134269586134269651E0683619
chr11134269753134269841E0683786
chr11134270300134270350E0684333
chr11134270961134271026E0684994
chr11134271615134271671E0685648
chr11134271722134271892E0685755
chr11134271947134271997E0685980
chr11134272017134272173E0686050
chr11134272197134272270E0686230
chr11134272303134272557E0686336
chr11134272653134272703E0686686
chr11134272857134273039E0686890
chr11134274227134274277E0688260
chr11134274448134274525E0688481
chr11134274727134274830E0688760
chr11134275065134275115E0689098
chr11134275270134275320E0689303
chr11134275625134275683E0689658
chr11134275986134276036E06810019
chr11134276179134276237E06810212
chr11134276311134276421E06810344
chr11134276554134276691E06810587
chr11134279008134279117E06813041
chr11134285055134285164E06819088
chr11134285218134285662E06819251
chr11134295321134295390E06829354
chr11134295487134295730E06829520
chr11134295830134296394E06829863
chr11134296816134296866E06830849
chr11134297060134297116E06831093
chr11134302875134302929E06836908
chr11134303037134303105E06837070
chr11134303136134303217E06837169
chr11134308212134308303E06842245
chr11134308427134308952E06842460
chr11134309059134309429E06843092
chr11134309561134309611E06843594
chr11134311349134311569E06845382
chr11134229826134230549E069-35418
chr11134255517134255579E069-10388
chr11134255653134255703E069-10264
chr11134256550134256616E069-9351
chr11134260508134260558E069-5409
chr11134260599134260655E069-5312
chr11134260976134261247E069-4720
chr11134263178134263232E069-2735
chr11134263324134263374E069-2593
chr11134263543134263722E069-2245
chr11134264032134264086E069-1881
chr11134264145134264232E069-1735
chr11134264483134264523E069-1444
chr11134264618134264715E069-1252
chr11134264921134265092E069-875
chr11134265615134265665E069-302
chr11134265914134266034E0690
chr11134266229134266279E069262
chr11134266572134266622E069605
chr11134266850134266966E069883
chr11134269753134269841E0693786
chr11134270300134270350E0694333
chr11134270961134271026E0694994
chr11134274727134274830E0698760
chr11134275065134275115E0699098
chr11134275270134275320E0699303
chr11134275625134275683E0699658
chr11134275986134276036E06910019
chr11134276179134276237E06910212
chr11134276311134276421E06910344
chr11134276554134276691E06910587
chr11134284567134284607E06918600
chr11134284630134284686E06918663
chr11134284719134284961E06918752
chr11134285055134285164E06919088
chr11134285218134285662E06919251
chr11134294706134294809E06928739
chr11134294858134294918E06928891
chr11134295321134295390E06929354
chr11134295830134296394E06929863
chr11134296816134296866E06930849
chr11134297060134297116E06931093
chr11134302603134302746E06936636
chr11134302875134302929E06936908
chr11134303037134303105E06937070
chr11134303136134303217E06937169
chr11134308212134308303E06942245
chr11134308427134308952E06942460
chr11134309059134309429E06943092
chr11134309561134309611E06943594
chr11134311349134311569E06945382
chr11134229826134230549E070-35418
chr11134255517134255579E070-10388
chr11134255653134255703E070-10264
chr11134255748134255912E070-10055
chr11134255943134256370E070-9597
chr11134256550134256616E070-9351
chr11134260307134260357E070-5610
chr11134260508134260558E070-5409
chr11134260599134260655E070-5312
chr11134260976134261247E070-4720
chr11134277218134277703E07011251
chr11134277710134277799E07011743
chr11134279008134279117E07013041
chr11134284567134284607E07018600
chr11134284630134284686E07018663
chr11134284719134284961E07018752
chr11134285055134285164E07019088
chr11134285218134285662E07019251
chr11134295321134295390E07029354
chr11134295487134295730E07029520
chr11134295830134296394E07029863
chr11134299330134299380E07033363
chr11134307947134307997E07041980
chr11134308091134308141E07042124
chr11134308212134308303E07042245
chr11134311349134311569E07045382
chr11134240990134241084E071-24883
chr11134241199134241297E071-24670
chr11134254364134254414E071-11553
chr11134254783134254894E071-11073
chr11134254895134254945E071-11022
chr11134255517134255579E071-10388
chr11134255653134255703E071-10264
chr11134255748134255912E071-10055
chr11134255943134256370E071-9597
chr11134256550134256616E071-9351
chr11134256813134257081E071-8886
chr11134257385134257437E071-8530
chr11134263178134263232E071-2735
chr11134263324134263374E071-2593
chr11134263543134263722E071-2245
chr11134264032134264086E071-1881
chr11134264145134264232E071-1735
chr11134264483134264523E071-1444
chr11134264618134264715E071-1252
chr11134264921134265092E071-875
chr11134265615134265665E071-302
chr11134265914134266034E0710
chr11134266229134266279E071262
chr11134266572134266622E071605
chr11134266850134266966E071883
chr11134267681134267735E0711714
chr11134268023134268280E0712056
chr11134269586134269651E0713619
chr11134269753134269841E0713786
chr11134270300134270350E0714333
chr11134270961134271026E0714994
chr11134272197134272270E0716230
chr11134272303134272557E0716336
chr11134272653134272703E0716686
chr11134272857134273039E0716890
chr11134274448134274525E0718481
chr11134274727134274830E0718760
chr11134275065134275115E0719098
chr11134275270134275320E0719303
chr11134275625134275683E0719658
chr11134275986134276036E07110019
chr11134276179134276237E07110212
chr11134276311134276421E07110344
chr11134276554134276691E07110587
chr11134277218134277703E07111251
chr11134277710134277799E07111743
chr11134286850134286900E07120883
chr11134287582134288312E07121615
chr11134288466134288693E07122499
chr11134294706134294809E07128739
chr11134294858134294918E07128891
chr11134295830134296394E07129863
chr11134296816134296866E07130849
chr11134302603134302746E07136636
chr11134302875134302929E07136908
chr11134303037134303105E07137070
chr11134303136134303217E07137169
chr11134307947134307997E07141980
chr11134308091134308141E07142124
chr11134308212134308303E07142245
chr11134308427134308952E07142460
chr11134309059134309429E07143092
chr11134311349134311569E07145382
chr11134239832134239882E072-26085
chr11134239885134239940E072-26027
chr11134254783134254894E072-11073
chr11134254895134254945E072-11022
chr11134255517134255579E072-10388
chr11134255653134255703E072-10264
chr11134255748134255912E072-10055
chr11134255943134256370E072-9597
chr11134256550134256616E072-9351
chr11134263178134263232E072-2735
chr11134263324134263374E072-2593
chr11134263543134263722E072-2245
chr11134264032134264086E072-1881
chr11134264145134264232E072-1735
chr11134264483134264523E072-1444
chr11134264618134264715E072-1252
chr11134264921134265092E072-875
chr11134265615134265665E072-302
chr11134265914134266034E0720
chr11134266229134266279E072262
chr11134266572134266622E072605
chr11134266850134266966E072883
chr11134267681134267735E0721714
chr11134268023134268280E0722056
chr11134268372134268412E0722405
chr11134268621134268743E0722654
chr11134268930134268981E0722963
chr11134269586134269651E0723619
chr11134269753134269841E0723786
chr11134270300134270350E0724333
chr11134270961134271026E0724994
chr11134271615134271671E0725648
chr11134271722134271892E0725755
chr11134271947134271997E0725980
chr11134272017134272173E0726050
chr11134272197134272270E0726230
chr11134272303134272557E0726336
chr11134272653134272703E0726686
chr11134272857134273039E0726890
chr11134274727134274830E0728760
chr11134275065134275115E0729098
chr11134275270134275320E0729303
chr11134275625134275683E0729658
chr11134275986134276036E07210019
chr11134276179134276237E07210212
chr11134276311134276421E07210344
chr11134276554134276691E07210587
chr11134279008134279117E07213041
chr11134285218134285662E07219251
chr11134294706134294809E07228739
chr11134294858134294918E07228891
chr11134295321134295390E07229354
chr11134295830134296394E07229863
chr11134296816134296866E07230849
chr11134297060134297116E07231093
chr11134302875134302929E07236908
chr11134303037134303105E07237070
chr11134303136134303217E07237169
chr11134308212134308303E07242245
chr11134308427134308952E07242460
chr11134309059134309429E07243092
chr11134309561134309611E07243594
chr11134311349134311569E07245382
chr11134229378134229428E073-36539
chr11134229540134229678E073-36289
chr11134229826134230549E073-35418
chr11134234933134234983E073-30984
chr11134234992134235055E073-30912
chr11134235143134235300E073-30667
chr11134235760134235900E073-30067
chr11134255517134255579E073-10388
chr11134255653134255703E073-10264
chr11134255748134255912E073-10055
chr11134255943134256370E073-9597
chr11134256550134256616E073-9351
chr11134256813134257081E073-8886
chr11134257385134257437E073-8530
chr11134257474134257514E073-8453
chr11134260307134260357E073-5610
chr11134260508134260558E073-5409
chr11134263543134263722E073-2245
chr11134264032134264086E073-1881
chr11134264145134264232E073-1735
chr11134264483134264523E073-1444
chr11134264618134264715E073-1252
chr11134264921134265092E073-875
chr11134265615134265665E073-302
chr11134265914134266034E0730
chr11134266229134266279E073262
chr11134266572134266622E073605
chr11134266850134266966E073883
chr11134267681134267735E0731714
chr11134268023134268280E0732056
chr11134268372134268412E0732405
chr11134268621134268743E0732654
chr11134268930134268981E0732963
chr11134269586134269651E0733619
chr11134269753134269841E0733786
chr11134270300134270350E0734333
chr11134272017134272173E0736050
chr11134272197134272270E0736230
chr11134272303134272557E0736336
chr11134272653134272703E0736686
chr11134272857134273039E0736890
chr11134274448134274525E0738481
chr11134274727134274830E0738760
chr11134275065134275115E0739098
chr11134275270134275320E0739303
chr11134275625134275683E0739658
chr11134275986134276036E07310019
chr11134276179134276237E07310212
chr11134276311134276421E07310344
chr11134276554134276691E07310587
chr11134277710134277799E07311743
chr11134279008134279117E07313041
chr11134283868134284228E07317901
chr11134284320134284441E07318353
chr11134284567134284607E07318600
chr11134284630134284686E07318663
chr11134284719134284961E07318752
chr11134285055134285164E07319088
chr11134285218134285662E07319251
chr11134287582134288312E07321615
chr11134294706134294809E07328739
chr11134294858134294918E07328891
chr11134295321134295390E07329354
chr11134296816134296866E07330849
chr11134308212134308303E07342245
chr11134308427134308952E07342460
chr11134309059134309429E07343092
chr11134309561134309611E07343594
chr11134241199134241297E074-24670
chr11134241359134241409E074-24558
chr11134255517134255579E074-10388
chr11134255653134255703E074-10264
chr11134255748134255912E074-10055
chr11134255943134256370E074-9597
chr11134256550134256616E074-9351
chr11134263178134263232E074-2735
chr11134263324134263374E074-2593
chr11134263543134263722E074-2245
chr11134264032134264086E074-1881
chr11134264145134264232E074-1735
chr11134264483134264523E074-1444
chr11134264618134264715E074-1252
chr11134264921134265092E074-875
chr11134265615134265665E074-302
chr11134265914134266034E0740
chr11134266229134266279E074262
chr11134266572134266622E074605
chr11134266850134266966E074883
chr11134267681134267735E0741714
chr11134269586134269651E0743619
chr11134269753134269841E0743786
chr11134270300134270350E0744333
chr11134270961134271026E0744994
chr11134271947134271997E0745980
chr11134272017134272173E0746050
chr11134272197134272270E0746230
chr11134272303134272557E0746336
chr11134272653134272703E0746686
chr11134272857134273039E0746890
chr11134277218134277703E07411251
chr11134277710134277799E07411743
chr11134279008134279117E07413041
chr11134285055134285164E07419088
chr11134285218134285662E07419251
chr11134294706134294809E07428739
chr11134294858134294918E07428891
chr11134295321134295390E07429354
chr11134295487134295730E07429520
chr11134295830134296394E07429863
chr11134296816134296866E07430849
chr11134297060134297116E07431093
chr11134302875134302929E07436908
chr11134303037134303105E07437070
chr11134303136134303217E07437169
chr11134308212134308303E07442245
chr11134308427134308952E07442460
chr11134309059134309429E07443092
chr11134311349134311569E07445382
chr11134228564134228614E081-37353
chr11134228736134228913E081-37054
chr11134229273134229351E081-36616
chr11134229378134229428E081-36539
chr11134229540134229678E081-36289
chr11134229826134230549E081-35418
chr11134234703134234765E081-31202
chr11134234933134234983E081-30984
chr11134234992134235055E081-30912
chr11134235143134235300E081-30667
chr11134235760134235900E081-30067
chr11134237101134237422E081-28545
chr11134237547134237721E081-28246
chr11134254783134254894E081-11073
chr11134254895134254945E081-11022
chr11134255517134255579E081-10388
chr11134255653134255703E081-10264
chr11134255748134255912E081-10055
chr11134255943134256370E081-9597
chr11134256550134256616E081-9351
chr11134256813134257081E081-8886
chr11134257385134257437E081-8530
chr11134257474134257514E081-8453
chr11134260307134260357E081-5610
chr11134260508134260558E081-5409
chr11134260599134260655E081-5312
chr11134260976134261247E081-4720
chr11134263178134263232E081-2735
chr11134263324134263374E081-2593
chr11134263543134263722E081-2245
chr11134264032134264086E081-1881
chr11134264145134264232E081-1735
chr11134264483134264523E081-1444
chr11134264618134264715E081-1252
chr11134264921134265092E081-875
chr11134268023134268280E0812056
chr11134268372134268412E0812405
chr11134268621134268743E0812654
chr11134268930134268981E0812963
chr11134269586134269651E0813619
chr11134269753134269841E0813786
chr11134270300134270350E0814333
chr11134274448134274525E0818481
chr11134274727134274830E0818760
chr11134275065134275115E0819098
chr11134275270134275320E0819303
chr11134275625134275683E0819658
chr11134275986134276036E08110019
chr11134276179134276237E08110212
chr11134276311134276421E08110344
chr11134276554134276691E08110587
chr11134277218134277703E08111251
chr11134277710134277799E08111743
chr11134279008134279117E08113041
chr11134279640134279778E08113673
chr11134279856134279969E08113889
chr11134280007134280115E08114040
chr11134283868134284228E08117901
chr11134284320134284441E08118353
chr11134284567134284607E08118600
chr11134284630134284686E08118663
chr11134284719134284961E08118752
chr11134285055134285164E08119088
chr11134285218134285662E08119251
chr11134287582134288312E08121615
chr11134288466134288693E08122499
chr11134288822134288872E08122855
chr11134293249134293349E08127282
chr11134293573134293874E08127606
chr11134295487134295730E08129520
chr11134295830134296394E08129863
chr11134296816134296866E08130849
chr11134297060134297116E08131093
chr11134300134134300223E08134167
chr11134300457134300653E08134490
chr11134308212134308303E08142245
chr11134308427134308952E08142460
chr11134309059134309429E08143092
chr11134309561134309611E08143594
chr11134309792134309856E08143825
chr11134311349134311569E08145382
chr11134229540134229678E082-36289
chr11134229826134230549E082-35418
chr11134244413134244579E082-21388
chr11134254783134254894E082-11073
chr11134254895134254945E082-11022
chr11134255517134255579E082-10388
chr11134255653134255703E082-10264
chr11134256550134256616E082-9351
chr11134256813134257081E082-8886
chr11134260508134260558E082-5409
chr11134260599134260655E082-5312
chr11134264145134264232E082-1735
chr11134264483134264523E082-1444
chr11134265914134266034E0820
chr11134266229134266279E082262
chr11134267681134267735E0821714
chr11134268023134268280E0822056
chr11134268372134268412E0822405
chr11134268621134268743E0822654
chr11134269586134269651E0823619
chr11134269753134269841E0823786
chr11134274448134274525E0828481
chr11134274727134274830E0828760
chr11134275065134275115E0829098
chr11134275270134275320E0829303
chr11134275625134275683E0829658
chr11134275986134276036E08210019
chr11134276179134276237E08210212
chr11134276311134276421E08210344
chr11134276554134276691E08210587
chr11134284567134284607E08218600
chr11134284630134284686E08218663
chr11134284719134284961E08218752
chr11134285055134285164E08219088
chr11134285218134285662E08219251
chr11134295487134295730E08229520
chr11134295830134296394E08229863
chr11134309059134309429E08243092
chr11134309561134309611E08243594
chr11134309792134309856E08243825
chr11134311349134311569E08245382










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11134281068134281166E06715101
chr11134281262134281700E06715295
chr11134281887134282321E06715920
chr11134282361134283853E06716394
chr11134281068134281166E06815101
chr11134281262134281700E06815295
chr11134282361134283853E06816394
chr11134281068134281166E06915101
chr11134281262134281700E06915295
chr11134281887134282321E06915920
chr11134282361134283853E06916394
chr11134281262134281700E07015295
chr11134281887134282321E07015920
chr11134282361134283853E07016394
chr11134281068134281166E07115101
chr11134281262134281700E07115295
chr11134281887134282321E07115920
chr11134282361134283853E07116394
chr11134281068134281166E07215101
chr11134281262134281700E07215295
chr11134281887134282321E07215920
chr11134282361134283853E07216394
chr11134281068134281166E07315101
chr11134281262134281700E07315295
chr11134281887134282321E07315920
chr11134282361134283853E07316394
chr11134281068134281166E07415101
chr11134281262134281700E07415295
chr11134281887134282321E07415920
chr11134282361134283853E07416394
chr11134281068134281166E08115101
chr11134281262134281700E08115295
chr11134281068134281166E08215101
chr11134281262134281700E08215295
chr11134281887134282321E08215920
chr11134282361134283853E08216394