rs1273396

Homo sapiens
C>G
ABAT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0066 (2004/29954,GnomAD)
G=0051 (1488/29118,TOPMED)
G=0067 (338/5008,1000G)
G=0083 (318/3854,ALSPAC)
G=0080 (297/3708,TWINSUK)
chr16:8722955 (GRCh38.p7) (16p13.2)
ND
GWASdb2
1   publication(s)
See rs on genome
160 Enhancers around
66 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.8722955C>G
GRCh37.p13 chr 16NC_000016.9:g.8816812C>G
ABAT RefSeqGeneNG_008432.1:g.53369C>G

Gene: ABAT, 4-aminobutyrate aminotransferase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ABAT transcript variant 2NM_000663.4:c.N/AIntron Variant
ABAT transcript variant 3NM_001127448.1:c.N/AIntron Variant
ABAT transcript variant 1NM_020686.5:c.N/AIntron Variant
ABAT transcript variant X1XM_011522400.2:c.N/AIntron Variant
ABAT transcript variant X2XM_011522401.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.997G=0.003
1000GenomesAmericanSub694C=0.940G=0.060
1000GenomesEast AsianSub1008C=0.913G=0.087
1000GenomesEuropeSub1006C=0.920G=0.080
1000GenomesGlobalStudy-wide5008C=0.933G=0.067
1000GenomesSouth AsianSub978C=0.870G=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.917G=0.083
The Genome Aggregation DatabaseAfricanSub8720C=0.988G=0.012
The Genome Aggregation DatabaseAmericanSub838C=0.960G=0.040
The Genome Aggregation DatabaseEast AsianSub1614C=0.904G=0.096
The Genome Aggregation DatabaseEuropeSub18480C=0.908G=0.091
The Genome Aggregation DatabaseGlobalStudy-wide29954C=0.933G=0.066
The Genome Aggregation DatabaseOtherSub302C=0.930G=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.948G=0.051
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.920G=0.080
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs12733960.000695nicotine smoking19268276

eQTL of rs1273396 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 rs1273396 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 )
chr1687796208779767E067-37045
chr1687798008780226E067-36586
chr1687802888780485E067-36327
chr1687805528780990E067-35822
chr1688125458813405E067-3407
chr1688135048813582E067-3230
chr1688136748813760E067-3052
chr1688140528815856E067-956
chr1687706408770733E068-46079
chr1687708988770957E068-45855
chr1687709658771684E068-45128
chr1687796208779767E068-37045
chr1687798008780226E068-36586
chr1687802888780485E068-36327
chr1687805528780990E068-35822
chr1688123418812428E068-4384
chr1688124768812543E068-4269
chr1688135048813582E068-3230
chr1688136748813760E068-3052
chr1688235478823738E0686735
chr1688237598824797E0686947
chr1688342088835309E06817396
chr1688353828835567E06818570
chr1688356758835811E06818863
chr1688359128836413E06819100
chr1688622358862470E06845423
chr1687702468770296E069-46516
chr1687703108770390E069-46422
chr1687705718770611E069-46201
chr1687706408770733E069-46079
chr1687708988770957E069-45855
chr1687709658771684E069-45128
chr1687796208779767E069-37045
chr1687798008780226E069-36586
chr1687802888780485E069-36327
chr1687805528780990E069-35822
chr1688102318810311E069-6501
chr1688123418812428E069-4384
chr1688124768812543E069-4269
chr1688125458813405E069-3407
chr1688135048813582E069-3230
chr1688140528815856E069-956
chr1688237598824797E0696947
chr1688342088835309E06917396
chr1687757758776013E070-40799
chr1687760738776184E070-40628
chr1687762538776309E070-40503
chr1687796208779767E070-37045
chr1687802888780485E070-36327
chr1687805528780990E070-35822
chr1688022948802344E070-14468
chr1688025148802697E070-14115
chr1688123418812428E070-4384
chr1688124768812543E070-4269
chr1688135048813582E070-3230
chr1688136748813760E070-3052
chr1688166068816666E070-146
chr1688167668816816E0700
chr1688172978817408E070485
chr1688174768817530E070664
chr1687698608770117E071-46695
chr1687702468770296E071-46516
chr1687703108770390E071-46422
chr1687757758776013E071-40799
chr1687760738776184E071-40628
chr1687798008780226E071-36586
chr1687802888780485E071-36327
chr1688123418812428E071-4384
chr1688124768812543E071-4269
chr1688125458813405E071-3407
chr1688135048813582E071-3230
chr1688136748813760E071-3052
chr1688140528815856E071-956
chr1688237598824797E0716947
chr1687698608770117E072-46695
chr1687802888780485E072-36327
chr1687805528780990E072-35822
chr1688125458813405E072-3407
chr1688135048813582E072-3230
chr1688136748813760E072-3052
chr1688140528815856E072-956
chr1688280808828541E07211268
chr1688342088835309E07217396
chr1687698608770117E073-46695
chr1687702468770296E073-46516
chr1687703108770390E073-46422
chr1687705718770611E073-46201
chr1687706408770733E073-46079
chr1687796208779767E073-37045
chr1687798008780226E073-36586
chr1687802888780485E073-36327
chr1687805528780990E073-35822
chr1687810148781104E073-35708
chr1688125458813405E073-3407
chr1688135048813582E073-3230
chr1688136748813760E073-3052
chr1688140528815856E073-956
chr1687709658771684E074-45128
chr1687796208779767E074-37045
chr1687798008780226E074-36586
chr1687802888780485E074-36327
chr1687805528780990E074-35822
chr1688123418812428E074-4384
chr1688124768812543E074-4269
chr1688125458813405E074-3407
chr1688135048813582E074-3230
chr1688136748813760E074-3052
chr1688140528815856E074-956
chr1688280808828541E07411268
chr1688342088835309E07417396
chr1687694168769476E081-47336
chr1687695158769559E081-47253
chr1687696728769858E081-46954
chr1687698608770117E081-46695
chr1687702468770296E081-46516
chr1687703108770390E081-46422
chr1687757758776013E081-40799
chr1687760738776184E081-40628
chr1687762538776309E081-40503
chr1687796208779767E081-37045
chr1687798008780226E081-36586
chr1687802888780485E081-36327
chr1687805528780990E081-35822
chr1687886188788913E081-27899
chr1687889408789165E081-27647
chr1687892238789542E081-27270
chr1687896728789722E081-27090
chr1688022948802344E081-14468
chr1688025148802697E081-14115
chr1688028238802967E081-13845
chr1688034308803483E081-13329
chr1688037618803833E081-12979
chr1688038678803917E081-12895
chr1688039778804027E081-12785
chr1688041838804418E081-12394
chr1688102318810311E081-6501
chr1688103198810808E081-6004
chr1688123418812428E081-4384
chr1688124768812543E081-4269
chr1688125458813405E081-3407
chr1688135048813582E081-3230
chr1688136748813760E081-3052
chr1688140528815856E081-956
chr1688158758816122E081-690
chr1688210378821090E0814225
chr1688216298821703E0814817
chr1688359128836413E08119100
chr1688622358862470E08145423
chr1687698608770117E082-46695
chr1687702468770296E082-46516
chr1687703108770390E082-46422
chr1687762538776309E082-40503
chr1687765458776607E082-40205
chr1687796208779767E082-37045
chr1687802888780485E082-36327
chr1687805528780990E082-35822
chr1688028238802967E082-13845
chr1688135048813582E082-3230
chr1688136748813760E082-3052
chr1688622358862470E08245423










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1687676838768751E067-48061
chr1687687538768916E067-47896
chr1688061978807270E067-9542
chr1688073438807515E067-9297
chr1688075268808595E067-8217
chr1688086468808828E067-7984
chr1688089788809050E067-7762
chr1688091078809197E067-7615
chr1687676838768751E068-48061
chr1687687538768916E068-47896
chr1688061978807270E068-9542
chr1688073438807515E068-9297
chr1688075268808595E068-8217
chr1688086468808828E068-7984
chr1688089788809050E068-7762
chr1688091078809197E068-7615
chr1687676838768751E069-48061
chr1687687538768916E069-47896
chr1688061978807270E069-9542
chr1688073438807515E069-9297
chr1688075268808595E069-8217
chr1688086468808828E069-7984
chr1688089788809050E069-7762
chr1688091078809197E069-7615
chr1687676838768751E070-48061
chr1687687538768916E070-47896
chr1688061978807270E070-9542
chr1688073438807515E070-9297
chr1688075268808595E070-8217
chr1688086468808828E070-7984
chr1688089788809050E070-7762
chr1687676838768751E071-48061
chr1687687538768916E071-47896
chr1688061978807270E071-9542
chr1688073438807515E071-9297
chr1688075268808595E071-8217
chr1687676838768751E072-48061
chr1687687538768916E072-47896
chr1688061978807270E072-9542
chr1688073438807515E072-9297
chr1688075268808595E072-8217
chr1688086468808828E072-7984
chr1688089788809050E072-7762
chr1688091078809197E072-7615
chr1687676838768751E073-48061
chr1687687538768916E073-47896
chr1688061978807270E073-9542
chr1688073438807515E073-9297
chr1688075268808595E073-8217
chr1688086468808828E073-7984
chr1688089788809050E073-7762
chr1688091078809197E073-7615
chr1687676838768751E074-48061
chr1687687538768916E074-47896
chr1688073438807515E081-9297
chr1688075268808595E081-8217
chr1688086468808828E081-7984
chr1688089788809050E081-7762
chr1687676838768751E082-48061
chr1687687538768916E082-47896
chr1688061978807270E082-9542
chr1688073438807515E082-9297
chr1688075268808595E082-8217
chr1688086468808828E082-7984
chr1688089788809050E082-7762
chr1688091078809197E082-7615