rs2301597

Homo sapiens
T>C
NMT1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0492 (14754/29938,GnomAD)
C=0493 (14367/29118,TOPMED)
C=0405 (2029/5008,1000G)
T==0411 (1585/3854,ALSPAC)
T==0424 (1573/3708,TWINSUK)
chr17:45095905 (GRCh38.p7) (17q21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
309 Enhancers around
48 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.45095905T>C
GRCh37.p13 chr 17NC_000017.10:g.43173273T>C

Gene: NMT1, N-myristoyltransferase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NMT1 transcriptNM_021079.4:c.N/AIntron Variant
NMT1 transcript variant X1XM_011524858.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.542C=0.458
1000GenomesAmericanSub694T=0.540C=0.460
1000GenomesEast AsianSub1008T=0.831C=0.169
1000GenomesEuropeSub1006T=0.491C=0.509
1000GenomesGlobalStudy-wide5008T=0.595C=0.405
1000GenomesSouth AsianSub978T=0.570C=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.411C=0.589
The Genome Aggregation DatabaseAfricanSub8716T=0.533C=0.467
The Genome Aggregation DatabaseAmericanSub838T=0.560C=0.440
The Genome Aggregation DatabaseEast AsianSub1620T=0.835C=0.165
The Genome Aggregation DatabaseEuropeSub18462T=0.441C=0.558
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.492C=0.507
The Genome Aggregation DatabaseOtherSub302T=0.440C=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.506C=0.493
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.424C=0.576
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

P-Value

SNP ID p-value Traits Study
rs23015970.000874alcohol consumption (maxi-drinks)24277619

eQTL of rs2301597 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:43173273NMT1ENSG00000136448.7T>C1.2841e-344243Cerebellum
Chr17:43173273DCAKDENSG00000172992.7T>C1.9966e-1534800Cerebellum
Chr17:43173273DCAKDENSG00000172992.7T>C3.0375e-1234800Cerebellar_Hemisphere
Chr17:43173273NMT1ENSG00000136448.7T>C3.1904e-644243Caudate_basal_ganglia
Chr17:43173273NMT1ENSG00000136448.7T>C1.0466e-344243Brain_Spinal_cord_cervical
Chr17:43173273NMT1ENSG00000136448.7T>C5.4763e-544243Hippocampus
Chr17:43173273NMT1ENSG00000136448.7T>C4.7942e-444243Anterior_cingulate_cortex

meQTL of rs2301597 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 )
chr174314064743140977E067-32296
chr174315846143158753E067-14520
chr174315879143158922E067-14351
chr174316384043163924E067-9349
chr174316938743169865E067-3408
chr174316991943169984E067-3289
chr174317013143171225E067-2048
chr174317123743171357E067-1916
chr174317457943174663E0671306
chr174317469943174768E0671426
chr174317481843174881E0671545
chr174317519043175252E0671917
chr174317535143175401E0672078
chr174317544243175540E0672169
chr174317568943176057E0672416
chr174317612943176212E0672856
chr174317624543176313E0672972
chr174317904543180498E0675772
chr174318383643183890E06710563
chr174318395943184016E06710686
chr174318407243184188E06710799
chr174318431143184382E06711038
chr174318448243184532E06711209
chr174318469043184906E06711417
chr174318493843185165E06711665
chr174318527243185428E06711999
chr174318543843185482E06712165
chr174318555043185678E06712277
chr174318793743189144E06714664
chr174318923743189281E06715964
chr174318933643189580E06716063
chr174318959743189798E06716324
chr174321400643214665E06740733
chr174322291543222965E06749642
chr174313704343137113E068-36160
chr174313715843137247E068-36026
chr174314064743140977E068-32296
chr174315089043151419E068-21854
chr174315356843153656E068-19617
chr174315369943153954E068-19319
chr174315412643154379E068-18894
chr174315469443154776E068-18497
chr174315479343154858E068-18415
chr174315846143158753E068-14520
chr174315879143158922E068-14351
chr174315918743159227E068-14046
chr174315935343159443E068-13830
chr174316484143165441E068-7832
chr174316578043165830E068-7443
chr174316617743166490E068-6783
chr174316779643167954E068-5319
chr174316800543168140E068-5133
chr174316814443168408E068-4865
chr174316938743169865E068-3408
chr174316991943169984E068-3289
chr174317013143171225E068-2048
chr174317123743171357E068-1916
chr174317155943171603E068-1670
chr174317519043175252E0681917
chr174317535143175401E0682078
chr174317544243175540E0682169
chr174317568943176057E0682416
chr174317612943176212E0682856
chr174317624543176313E0682972
chr174317638943176921E0683116
chr174317695543177162E0683682
chr174318793743189144E06814664
chr174318923743189281E06815964
chr174318933643189580E06816063
chr174318959743189798E06816324
chr174322291543222965E06849642
chr174312639243126442E069-46831
chr174312654443126634E069-46639
chr174312667743126780E069-46493
chr174312692943126986E069-46287
chr174313677143136893E069-36380
chr174313693643136976E069-36297
chr174313704343137113E069-36160
chr174313715843137247E069-36026
chr174314064743140977E069-32296
chr174315042643150503E069-22770
chr174315089043151419E069-21854
chr174315213343152339E069-20934
chr174315879143158922E069-14351
chr174315918743159227E069-14046
chr174315935343159443E069-13830
chr174315946543159505E069-13768
chr174316384043163924E069-9349
chr174316462843164779E069-8494
chr174316484143165441E069-7832
chr174316938743169865E069-3408
chr174316991943169984E069-3289
chr174317013143171225E069-2048
chr174317123743171357E069-1916
chr174317535143175401E0692078
chr174317544243175540E0692169
chr174317568943176057E0692416
chr174317612943176212E0692856
chr174317624543176313E0692972
chr174317638943176921E0693116
chr174317695543177162E0693682
chr174318793743189144E06914664
chr174319112143191259E06917848
chr174319149243191591E06918219
chr174319161443191713E06918341
chr174319177243191917E06918499
chr174321400643214665E06940733
chr174312736343127421E070-45852
chr174313693643136976E070-36297
chr174313704343137113E070-36160
chr174313715843137247E070-36026
chr174316991943169984E070-3289
chr174317013143171225E070-2048
chr174312736343127421E071-45852
chr174313693643136976E071-36297
chr174315089043151419E071-21854
chr174315142843151535E071-21738
chr174315199643152036E071-21237
chr174315213343152339E071-20934
chr174315244543152499E071-20774
chr174316384043163924E071-9349
chr174316779643167954E071-5319
chr174316800543168140E071-5133
chr174316814443168408E071-4865
chr174316938743169865E071-3408
chr174316991943169984E071-3289
chr174317013143171225E071-2048
chr174317123743171357E071-1916
chr174317155943171603E071-1670
chr174317342143173478E071148
chr174317348543173602E071212
chr174317362243173876E071349
chr174317394843174027E071675
chr174317410643174156E071833
chr174317417443174252E071901
chr174317568943176057E0712416
chr174317612943176212E0712856
chr174317624543176313E0712972
chr174317638943176921E0713116
chr174317695543177162E0713682
chr174318625743186716E07112984
chr174318674643186862E07113473
chr174318793743189144E07114664
chr174318959743189798E07116324
chr174318983043190033E07116557
chr174319009443190201E07116821
chr174319021143190284E07116938
chr174319112143191259E07117848
chr174319149243191591E07118219
chr174319161443191713E07118341
chr174319177243191917E07118499
chr174319192343192349E07118650
chr174319237443192414E07119101
chr174320132743202263E07128054
chr174320439543205838E07131122
chr174320588743205968E07132614
chr174320598243206111E07132709
chr174321400643214665E07140733
chr174313704343137113E072-36160
chr174313715843137247E072-36026
chr174314064743140977E072-32296
chr174314129143141331E072-31942
chr174314161443141761E072-31512
chr174314184543141942E072-31331
chr174314212943142362E072-30911
chr174315089043151419E072-21854
chr174316384043163924E072-9349
chr174316484143165441E072-7832
chr174316938743169865E072-3408
chr174316991943169984E072-3289
chr174317013143171225E072-2048
chr174317123743171357E072-1916
chr174317441243174477E0721139
chr174317457943174663E0721306
chr174317469943174768E0721426
chr174317481843174881E0721545
chr174317519043175252E0721917
chr174317535143175401E0722078
chr174317544243175540E0722169
chr174317568943176057E0722416
chr174317612943176212E0722856
chr174317624543176313E0722972
chr174317638943176921E0723116
chr174317695543177162E0723682
chr174318353943183658E07210266
chr174318383643183890E07210563
chr174318395943184016E07210686
chr174318407243184188E07210799
chr174318793743189144E07214664
chr174319071043190962E07217437
chr174319098943191076E07217716
chr174319112143191259E07217848
chr174319149243191591E07218219
chr174319161443191713E07218341
chr174319177243191917E07218499
chr174319192343192349E07218650
chr174319237443192414E07219101
chr174319286143192933E07219588
chr174320588743205968E07232614
chr174320598243206111E07232709
chr174321400643214665E07240733
chr174312601543126103E073-47170
chr174312639243126442E073-46831
chr174312654443126634E073-46639
chr174312667743126780E073-46493
chr174313693643136976E073-36297
chr174314064743140977E073-32296
chr174316743043167480E073-5793
chr174316774743167794E073-5479
chr174316779643167954E073-5319
chr174316800543168140E073-5133
chr174316814443168408E073-4865
chr174316848243168527E073-4746
chr174316871943168827E073-4446
chr174316886043168904E073-4369
chr174316922643169377E073-3896
chr174316938743169865E073-3408
chr174316991943169984E073-3289
chr174317013143171225E073-2048
chr174317123743171357E073-1916
chr174317155943171603E073-1670
chr174317362243173876E073349
chr174317394843174027E073675
chr174317410643174156E073833
chr174317417443174252E073901
chr174317535143175401E0732078
chr174317544243175540E0732169
chr174317568943176057E0732416
chr174317612943176212E0732856
chr174317624543176313E0732972
chr174317638943176921E0733116
chr174317695543177162E0733682
chr174317739743177449E0734124
chr174317904543180498E0735772
chr174318448243184532E07311209
chr174318469043184906E07311417
chr174318493843185165E07311665
chr174318583043186036E07312557
chr174318608243186201E07312809
chr174318625743186716E07312984
chr174318674643186862E07313473
chr174318923743189281E07315964
chr174318933643189580E07316063
chr174318959743189798E07316324
chr174318983043190033E07316557
chr174319149243191591E07318219
chr174319161443191713E07318341
chr174319177243191917E07318499
chr174319192343192349E07318650
chr174319237443192414E07319101
chr174319247243192693E07319199
chr174319273843192792E07319465
chr174319286143192933E07319588
chr174319300143193126E07319728
chr174319329243193543E07320019
chr174319362643193727E07320353
chr174319373643193824E07320463
chr174319386043193923E07320587
chr174320588743205968E07332614
chr174320598243206111E07332709
chr174320619743206309E07332924
chr174320632043206398E07333047
chr174320647043206510E07333197
chr174320654443206601E07333271
chr174321400643214665E07340733
chr174313677143136893E074-36380
chr174313693643136976E074-36297
chr174313704343137113E074-36160
chr174313715843137247E074-36026
chr174314064743140977E074-32296
chr174314129143141331E074-31942
chr174314161443141761E074-31512
chr174314184543141942E074-31331
chr174314212943142362E074-30911
chr174314431743144462E074-28811
chr174314472943144783E074-28490
chr174314511543145364E074-27909
chr174315089043151419E074-21854
chr174315142843151535E074-21738
chr174316484143165441E074-7832
chr174316578043165830E074-7443
chr174316743043167480E074-5793
chr174316774743167794E074-5479
chr174316779643167954E074-5319
chr174316800543168140E074-5133
chr174316814443168408E074-4865
chr174316848243168527E074-4746
chr174316871943168827E074-4446
chr174316886043168904E074-4369
chr174316922643169377E074-3896
chr174316938743169865E074-3408
chr174316991943169984E074-3289
chr174317013143171225E074-2048
chr174317123743171357E074-1916
chr174317155943171603E074-1670
chr174317612943176212E0742856
chr174317624543176313E0742972
chr174317638943176921E0743116
chr174317695543177162E0743682
chr174318112743181204E0747854
chr174318131643181366E0748043
chr174321400643214665E07440733
chr174312736343127421E081-45852
chr174313017843130236E081-43037
chr174313715843137247E081-36026
chr174314064743140977E081-32296
chr174314212943142362E081-30911
chr174313704343137113E082-36160
chr174313715843137247E082-36026










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr174312764343129124E067-44149
chr174312922343129280E067-43993
chr174313778443137869E067-35404
chr174313789143139366E067-33907
chr174320874843210891E06735475
chr174312764343129124E068-44149
chr174312922343129280E068-43993
chr174313778443137869E068-35404
chr174313789143139366E068-33907
chr174320874843210891E06835475
chr174312764343129124E069-44149
chr174312922343129280E069-43993
chr174313778443137869E069-35404
chr174313789143139366E069-33907
chr174320874843210891E06935475
chr174312764343129124E070-44149
chr174312922343129280E070-43993
chr174313778443137869E070-35404
chr174313789143139366E070-33907
chr174320874843210891E07035475
chr174312764343129124E071-44149
chr174312922343129280E071-43993
chr174313778443137869E071-35404
chr174313789143139366E071-33907
chr174320874843210891E07135475
chr174312764343129124E072-44149
chr174312922343129280E072-43993
chr174313778443137869E072-35404
chr174313789143139366E072-33907
chr174320874843210891E07235475
chr174312764343129124E073-44149
chr174312922343129280E073-43993
chr174313778443137869E073-35404
chr174313789143139366E073-33907
chr174320874843210891E07335475
chr174312764343129124E074-44149
chr174312922343129280E074-43993
chr174313778443137869E074-35404
chr174313789143139366E074-33907
chr174320874843210891E07435475
chr174312764343129124E081-44149
chr174313778443137869E081-35404
chr174313789143139366E081-33907
chr174312764343129124E082-44149
chr174312922343129280E082-43993
chr174313778443137869E082-35404
chr174313789143139366E082-33907
chr174320874843210891E08235475