rs3732300

Homo sapiens
T>C
HK2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0185 (22477/120862,ExAC)
C=0202 (6065/29930,GnomAD)
C=0181 (5271/29116,TOPMED)
T==0196 (2549/13006,GO-ESP)
C=0183 (918/5008,1000G)
C=0183 (704/3854,ALSPAC)
C=0186 (691/3708,TWINSUK)
chr2:74872254 (GRCh38.p7) (2p12)
ND
GWASdb2
1   publication(s)
See rs on genome
86 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.74872254T>C
GRCh37.p13 chr 2NC_000002.11:g.75099381T>C

Gene: HK2, hexokinase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
HK2 transcriptNM_000189.4:c.N/AIntron Variant
HK2 transcript variant X1XM_005264280.1:c.N/AIntron Variant
HK2 transcript variant X2XM_011532807.1:c.N/AIntron Variant
HK2 transcript variant X3XM_017003945.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.773C=0.227
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.839C=0.161
1000GenomesEuropeSub1006T=0.822C=0.178
1000GenomesGlobalStudy-wide5008T=0.817C=0.183
1000GenomesSouth AsianSub978T=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.817C=0.183
The Exome Aggregation ConsortiumAmericanSub21884T=0.829C=0.170
The Exome Aggregation ConsortiumAsianSub25070T=0.803C=0.197
The Exome Aggregation ConsortiumEuropeSub73004T=0.813C=0.186
The Exome Aggregation ConsortiumGlobalStudy-wide120862T=0.814C=0.185
The Exome Aggregation ConsortiumOtherSub904T=0.810C=0.190
The Genome Aggregation DatabaseAfricanSub8698T=0.784C=0.216
The Genome Aggregation DatabaseAmericanSub836T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1614T=0.828C=0.172
The Genome Aggregation DatabaseEuropeSub18480T=0.797C=0.202
The Genome Aggregation DatabaseGlobalStudy-wide29930T=0.797C=0.202
The Genome Aggregation DatabaseOtherSub302T=0.830C=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.819C=0.181
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.814C=0.186
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs37323000.000112nicotine dependence17158188

eQTL of rs3732300 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 rs3732300 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 )
chr27504985275050440E067-48941
chr27507234675073132E067-26249
chr27512903275129102E06729651
chr27512917175129339E06729790
chr27512952775129641E06730146
chr27504985275050440E068-48941
chr27506890375069040E068-30341
chr27506971275069772E068-29609
chr27507000175070083E068-29298
chr27507016075070297E068-29084
chr27507053375071509E068-27872
chr27507201775072340E068-27041
chr27507234675073132E068-26249
chr27507611075077286E068-22095
chr27510319275103876E0683811
chr27512903275129102E06829651
chr27512917175129339E06829790
chr27512952775129641E06830146
chr27504985275050440E069-48941
chr27507611075077286E069-22095
chr27507737875077428E069-21953
chr27510319275103876E0693811
chr27512903275129102E06929651
chr27504985275050440E070-48941
chr27507160875071825E070-27556
chr27507201775072340E070-27041
chr27507234675073132E070-26249
chr27508925275090032E070-9349
chr27510319275103876E0703811
chr27504957175049728E071-49653
chr27504985275050440E071-48941
chr27507016075070297E071-29084
chr27507053375071509E071-27872
chr27507151875071589E071-27792
chr27507234675073132E071-26249
chr27507611075077286E071-22095
chr27507737875077428E071-21953
chr27507778175077989E071-21392
chr27510319275103876E0713811
chr27512836775128441E07128986
chr27512903275129102E07129651
chr27512917175129339E07129790
chr27512952775129641E07130146
chr27504985275050440E072-48941
chr27507737875077428E072-21953
chr27510319275103876E0723811
chr27511550875115658E07216127
chr27512836775128441E07228986
chr27512903275129102E07229651
chr27512917175129339E07229790
chr27512952775129641E07230146
chr27507234675073132E073-26249
chr27507316775073390E073-25991
chr27510319275103876E0733811
chr27504985275050440E074-48941
chr27506861575068701E074-30680
chr27507611075077286E074-22095
chr27510319275103876E0743811
chr27512903275129102E07429651
chr27507016075070297E081-29084
chr27507053375071509E081-27872
chr27507234675073132E081-26249
chr27508455675084610E081-14771
chr27508716775087229E081-12152
chr27508770575087878E081-11503
chr27508795675088154E081-11227
chr27508840475088481E081-10900
chr27508868375088991E081-10390
chr27508925275090032E081-9349
chr27509003675090454E081-8927
chr27509049475090667E081-8714
chr27509079375090861E081-8520
chr27510319275103876E0813811
chr27507053375071509E082-27872
chr27507201775072340E082-27041
chr27507234675073132E082-26249
chr27508716775087229E082-12152
chr27508770575087878E082-11503
chr27508795675088154E082-11227
chr27508840475088481E082-10900
chr27508868375088991E082-10390
chr27508925275090032E082-9349
chr27509003675090454E082-8927
chr27509049475090667E082-8714
chr27509079375090861E082-8520
chr27509097475091127E082-8254










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr27506045675061396E067-37985
chr27506143275061587E067-37794
chr27506158875064774E067-34607
chr27506045675061396E068-37985
chr27506143275061587E068-37794
chr27506158875064774E068-34607
chr27514693375147383E06847552
chr27506045675061396E069-37985
chr27506143275061587E069-37794
chr27506158875064774E069-34607
chr27514693375147383E06947552
chr27506045675061396E070-37985
chr27506143275061587E070-37794
chr27506045675061396E071-37985
chr27506143275061587E071-37794
chr27506158875064774E071-34607
chr27514693375147383E07147552
chr27506045675061396E072-37985
chr27506143275061587E072-37794
chr27506158875064774E072-34607
chr27514693375147383E07247552
chr27506045675061396E073-37985
chr27506143275061587E073-37794
chr27514693375147383E07347552
chr27506045675061396E074-37985
chr27506143275061587E074-37794
chr27506158875064774E074-34607
chr27514693375147383E07447552
chr27506045675061396E082-37985
chr27506143275061587E082-37794
chr27506158875064774E082-34607
chr27514693375147383E08247552