rs7605321

Homo sapiens
G>A
B3GNT2 : Intron Variant
MIR5192 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0335 (10032/29926,GnomAD)
G==0388 (11304/29116,TOPMED)
G==0365 (1828/5008,1000G)
G==0319 (1231/3854,ALSPAC)
G==0327 (1214/3708,TWINSUK)
chr2:62204998 (GRCh38.p7) (2p15)
AD
GWASdb2
1   publication(s)
See rs on genome
163 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.62204998G>A
GRCh37.p13 chr 2NC_000002.11:g.62432133G>A

Gene: B3GNT2, UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
B3GNT2 transcript variant 1NM_006577.5:c.N/AIntron Variant
B3GNT2 transcript variant 3NM_001319075.1:c.N/AGenic Upstream Transcript Variant

Gene: MIR5192, microRNA 5192(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
MIR5192 transcriptNR_049824.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.418A=0.582
1000GenomesAmericanSub694G=0.410A=0.590
1000GenomesEast AsianSub1008G=0.357A=0.643
1000GenomesEuropeSub1006G=0.336A=0.664
1000GenomesGlobalStudy-wide5008G=0.365A=0.635
1000GenomesSouth AsianSub978G=0.300A=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.319A=0.681
The Genome Aggregation DatabaseAfricanSub8700G=0.421A=0.579
The Genome Aggregation DatabaseAmericanSub836G=0.420A=0.580
The Genome Aggregation DatabaseEast AsianSub1608G=0.330A=0.670
The Genome Aggregation DatabaseEuropeSub18480G=0.289A=0.710
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.335A=0.664
The Genome Aggregation DatabaseOtherSub302G=0.440A=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.388A=0.611
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.327A=0.673
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
rs76053210.0006alcohol dependence20201924

eQTL of rs7605321 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 rs7605321 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 )
chr26240589362406514E067-25619
chr26240656662406623E067-25510
chr26241159362412305E067-19828
chr26242772762427968E067-4165
chr26242814962428238E067-3895
chr26242841162428533E067-3600
chr26242865362428855E067-3278
chr26242930862429420E067-2713
chr26243039862430442E067-1691
chr26243095662431020E067-1113
chr26244248362443039E06710350
chr26244306662443175E06710933
chr26244324962443540E06711116
chr26246181562461865E06729682
chr26246194062462026E06729807
chr26246203162462122E06729898
chr26246216862462490E06730035
chr26246254162462706E06730408
chr26238560362386317E068-45816
chr26240589362406514E068-25619
chr26240656662406623E068-25510
chr26241159362412305E068-19828
chr26242841162428533E068-3600
chr26242865362428855E068-3278
chr26242930862429420E068-2713
chr26242949962429789E068-2344
chr26243006162430153E068-1980
chr26243039862430442E068-1691
chr26243095662431020E068-1113
chr26243230462432451E068171
chr26243278062433021E068647
chr26243534762435504E0683214
chr26243571662436306E0683583
chr26243640962436546E0684276
chr26243662862436696E0684495
chr26243694662436996E0684813
chr26243738362437462E0685250
chr26244101462441144E0688881
chr26244133062441396E0689197
chr26244193362442011E0689800
chr26244248362443039E06810350
chr26244306662443175E06810933
chr26244324962443540E06811116
chr26244358862443637E06811455
chr26244377762443844E06811644
chr26244389862444198E06811765
chr26244481462445155E06812681
chr26244516462445345E06813031
chr26244535962445441E06813226
chr26246181562461865E06829682
chr26246194062462026E06829807
chr26246203162462122E06829898
chr26238432762384587E069-47546
chr26238458862384736E069-47397
chr26240288662403251E069-28882
chr26240589362406514E069-25619
chr26241159362412305E069-19828
chr26241248562412573E069-19560
chr26241305062414113E069-18020
chr26242164962422167E069-9966
chr26242930862429420E069-2713
chr26242949962429789E069-2344
chr26243006162430153E069-1980
chr26243039862430442E069-1691
chr26243095662431020E069-1113
chr26243534762435504E0693214
chr26243571662436306E0693583
chr26244193362442011E0699800
chr26244248362443039E06910350
chr26244306662443175E06910933
chr26246181562461865E06929682
chr26246194062462026E06929807
chr26240288662403251E070-28882
chr26241159362412305E070-19828
chr26241248562412573E070-19560
chr26238432762384587E071-47546
chr26238458862384736E071-47397
chr26240589362406514E071-25619
chr26241159362412305E071-19828
chr26241248562412573E071-19560
chr26242164962422167E071-9966
chr26242841162428533E071-3600
chr26242930862429420E071-2713
chr26242949962429789E071-2344
chr26243095662431020E071-1113
chr26244193362442011E0719800
chr26244248362443039E07110350
chr26244842462448491E07116291
chr26244851562448579E07116382
chr26240288662403251E072-28882
chr26240589362406514E072-25619
chr26240656662406623E072-25510
chr26241248562412573E072-19560
chr26242164962422167E072-9966
chr26243534762435504E0723214
chr26243571662436306E0723583
chr26244015362440193E0728020
chr26244248362443039E07210350
chr26244306662443175E07210933
chr26244324962443540E07211116
chr26246194062462026E07229807
chr26246203162462122E07229898
chr26246216862462490E07230035
chr26246254162462706E07230408
chr26238458862384736E073-47397
chr26240589362406514E073-25619
chr26241159362412305E073-19828
chr26241248562412573E073-19560
chr26242930862429420E073-2713
chr26242949962429789E073-2344
chr26243006162430153E073-1980
chr26243039862430442E073-1691
chr26243571662436306E0733583
chr26243640962436546E0734276
chr26243662862436696E0734495
chr26244101462441144E0738881
chr26244133062441396E0739197
chr26244248362443039E07310350
chr26244306662443175E07310933
chr26244324962443540E07311116
chr26244358862443637E07311455
chr26244377762443844E07311644
chr26238432762384587E074-47546
chr26238458862384736E074-47397
chr26240589362406514E074-25619
chr26241159362412305E074-19828
chr26241248562412573E074-19560
chr26243095662431020E074-1113
chr26244248362443039E07410350
chr26240288662403251E081-28882
chr26240393262404448E081-27685
chr26241159362412305E081-19828
chr26241248562412573E081-19560
chr26241305062414113E081-18020
chr26241471762414832E081-17301
chr26241493762414993E081-17140
chr26241595462416072E081-16061
chr26242164962422167E081-9966
chr26242587962425929E081-6204
chr26242599062426030E081-6103
chr26242661462426786E081-5347
chr26242684462427101E081-5032
chr26243006162430153E081-1980
chr26243039862430442E081-1691
chr26243095662431020E081-1113
chr26243278062433021E081647
chr26243534762435504E0813214
chr26243571662436306E0813583
chr26244193362442011E0819800
chr26244248362443039E08110350
chr26246181562461865E08129682
chr26246194062462026E08129807
chr26246203162462122E08129898
chr26246216862462490E08130035
chr26246254162462706E08130408
chr26241159362412305E082-19828
chr26241248562412573E082-19560
chr26242684462427101E082-5032
chr26244193362442011E0829800
chr26244248362443039E08210350
chr26246181562461865E08229682
chr26246194062462026E08229807
chr26246203162462122E08229898










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr26242239662425325E067-6808
chr26242239662425325E068-6808
chr26242239662425325E069-6808
chr26242239662425325E070-6808
chr26242239662425325E071-6808
chr26242239662425325E072-6808
chr26242239662425325E073-6808
chr26242239662425325E074-6808
chr26242239662425325E082-6808