rs1109374

Homo sapiens
T>C
AK4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0281 (8413/29904,GnomAD)
C=0282 (8216/29118,TOPMED)
C=0323 (1619/5008,1000G)
C=0235 (905/3854,ALSPAC)
C=0225 (834/3708,TWINSUK)
chr1:65167814 (GRCh38.p7) (1p31.3)
ND
GWASdb2
2   publication(s)
See rs on genome
88 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.65167814T>C
GRCh37.p13 chr 1NC_000001.10:g.65633497T>C

Gene: AK4, adenylate kinase 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AK4 transcript variant 1NM_001005353.2:c.N/AIntron Variant
AK4 transcript variant 2NM_013410.3:c.N/AIntron Variant
AK4 transcript variant 3NM_203464.2:c.N/AIntron Variant
AK4 transcript variant X1XM_017000612.1:c.N/AIntron Variant
AK4 transcript variant X1XM_017000613.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.625C=0.375
1000GenomesAmericanSub694T=0.820C=0.180
1000GenomesEast AsianSub1008T=0.406C=0.594
1000GenomesEuropeSub1006T=0.764C=0.236
1000GenomesGlobalStudy-wide5008T=0.677C=0.323
1000GenomesSouth AsianSub978T=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.765C=0.235
The Genome Aggregation DatabaseAfricanSub8698T=0.675C=0.325
The Genome Aggregation DatabaseAmericanSub836T=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1608T=0.427C=0.573
The Genome Aggregation DatabaseEuropeSub18462T=0.761C=0.238
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.718C=0.281
The Genome Aggregation DatabaseOtherSub300T=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.717C=0.282
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.775C=0.225
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
18519066Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays.Franke LAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs11093747.97E-05nicotine smoking19268276

eQTL of rs1109374 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 rs1109374 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 )
chr16564072665642249E0677229
chr16562895265629177E068-4320
chr16563041065630650E068-2847
chr16563096265631049E068-2448
chr16563116665631248E068-2249
chr16563130165631651E068-1846
chr16563612465636595E0682627
chr16563878065638950E0685283
chr16563944665639515E0685949
chr16563959265639748E0686095
chr16564007865640132E0686581
chr16564015665640593E0686659
chr16564072665642249E0687229
chr16564240865642547E0688911
chr16564304865643671E0689551
chr16564398765644037E06810490
chr16564408865644201E06810591
chr16567940665679487E06845909
chr16563130165631651E069-1846
chr16563175665632056E069-1441
chr16563600765636057E0692510
chr16563612465636595E0692627
chr16567432065674511E06940823
chr16567484765675311E06941350
chr16567532065675381E06941823
chr16561628365616632E070-16865
chr16563265265633011E070-486
chr16563325465633622E0700
chr16563814065638316E0704643
chr16563878065638950E0705283
chr16563944665639515E0705949
chr16563959265639748E0706095
chr16564007865640132E0706581
chr16564015665640593E0706659
chr16564072665642249E0707229
chr16564240865642547E0708911
chr16563944665639515E0715949
chr16563959265639748E0716095
chr16564007865640132E0716581
chr16564015665640593E0716659
chr16564072665642249E0717229
chr16566395065664023E07130453
chr16564072665642249E0727229
chr16567484765675311E07241350
chr16567532065675381E07241823
chr16563130165631651E073-1846
chr16563175665632056E073-1441
chr16563612465636595E0732627
chr16564072665642249E0737229
chr16564240865642547E0738911
chr16564304865643671E0739551
chr16567484765675311E07441350
chr16567532065675381E07441823
chr16568134165681686E07447844
chr16561628365616632E081-16865
chr16561665365616733E081-16764
chr16561748165617655E081-15842
chr16561788765617957E081-15540
chr16563175665632056E081-1441
chr16563265265633011E081-486
chr16563325465633622E0810
chr16563479265634846E0811295
chr16563566765635769E0812170
chr16563600765636057E0812510
chr16563612465636595E0812627
chr16563785365637923E0814356
chr16563814065638316E0814643
chr16563878065638950E0815283
chr16563944665639515E0815949
chr16563959265639748E0816095
chr16564007865640132E0816581
chr16564015665640593E0816659
chr16564072665642249E0817229
chr16564240865642547E0818911
chr16564928565649641E08115788
chr16565531965655502E08121822
chr16565550465655635E08122007
chr16561628365616632E082-16865
chr16563325465633622E0820
chr16563600765636057E0822510
chr16563612465636595E0822627
chr16563878065638950E0825283
chr16563944665639515E0825949
chr16564007865640132E0826581
chr16564015665640593E0826659
chr16564072665642249E0827229
chr16564240865642547E0828911
chr16566145565662116E08227958










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr16561285765613925E067-19572
chr16561422265616111E067-17386
chr16561285765613925E068-19572
chr16561422265616111E068-17386
chr16561285765613925E069-19572
chr16561422265616111E069-17386
chr16561285765613925E070-19572
chr16561422265616111E070-17386
chr16561285765613925E071-19572
chr16561422265616111E071-17386
chr16561285765613925E072-19572
chr16561422265616111E072-17386
chr16561285765613925E073-19572
chr16561422265616111E073-17386
chr16561285765613925E074-19572
chr16561422265616111E074-17386
chr16561285765613925E082-19572