rs34684276

Homo sapiens
G>A
HYKK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0228 (6700/29266,GnomAD)
A=0153 (764/5008,1000G)
chr15:78520813 (GRCh38.p7) (15q25.1)
ND
GWASCatalog
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.78520813G>A
GRCh37.p13 chr 15NC_000015.9:g.78813155G>A

Gene: HYKK, hydroxylysine kinase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
HYKK transcript variant 1NM_001013619.3:c.N/AIntron Variant
HYKK transcript variant 2NM_001083612.1:c.N/AIntron Variant
HYKK transcript variant X3XM_011521231.2:c.N/AIntron Variant
HYKK transcript variant X1XM_017021922.1:c.N/AIntron Variant
HYKK transcript variant X2XR_243078.4:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.977A=0.023
1000GenomesAmericanSub694G=0.800A=0.200
1000GenomesEast AsianSub1008G=0.974A=0.026
1000GenomesEuropeSub1006G=0.623A=0.377
1000GenomesGlobalStudy-wide5008G=0.847A=0.153
1000GenomesSouth AsianSub978G=0.810A=0.190
The Genome Aggregation DatabaseAfricanSub8590G=0.944A=0.056
The Genome Aggregation DatabaseAmericanSub834G=0.810A=0.190
The Genome Aggregation DatabaseEast AsianSub1600G=0.974A=0.026
The Genome Aggregation DatabaseEuropeSub17952G=0.669A=0.330
The Genome Aggregation DatabaseGlobalStudy-wide29266G=0.771A=0.228
The Genome Aggregation DatabaseOtherSub290G=0.690A=0.310
PMID Title Author Journal
26440539Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence.Hancock DBTransl Psychiatry

P-Value

SNP ID p-value Traits Study
rs346842764E-17nicotine dependence26440539

eQTL of rs34684276 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 rs34684276 in Fetal Brain

Probe ID Position Gene beta p-value
cg18825076chr15:78729989IREB2-0.04743747455844151.3289e-10

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 )
chr157883465278834702E06721497
chr157878771278787808E069-25347
chr157883465278834702E06921497
chr157883485878834908E06921703
chr157883506878835124E06921913
chr157883512578835267E06921970
chr157883541478835508E06922259
chr157883557978835628E06922424
chr157878697378787058E070-26097
chr157878705978787113E070-26042
chr157878726178787562E070-25593
chr157878771278787808E070-25347
chr157883465278834702E07021497
chr157878726178787562E071-25593
chr157879907878799143E071-14012
chr157885686878857013E07243713
chr157883465278834702E07321497
chr157878726178787562E074-25593
chr157878771278787808E074-25347
chr157878697378787058E081-26097
chr157878705978787113E081-26042
chr157878726178787562E081-25593
chr157879907878799143E081-14012
chr157883465278834702E08121497
chr157883485878834908E08121703
chr157883465278834702E08221497
chr157883485878834908E08221703









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr157879930478800964E067-12191
chr157883216578832234E06719010
chr157883228778834159E06719132
chr157885705278859300E06743897
chr157879930478800964E068-12191
chr157883216578832234E06819010
chr157883228778834159E06819132
chr157879930478800964E069-12191
chr157883216578832234E06919010
chr157883228778834159E06919132
chr157885705278859300E06943897
chr157883216578832234E07019010
chr157883228778834159E07019132
chr157885705278859300E07043897
chr157879930478800964E071-12191
chr157883216578832234E07119010
chr157883228778834159E07119132
chr157879930478800964E072-12191
chr157883216578832234E07219010
chr157883228778834159E07219132
chr157885705278859300E07243897
chr157879930478800964E073-12191
chr157883216578832234E07319010
chr157883228778834159E07319132
chr157885705278859300E07343897
chr157879930478800964E074-12191
chr157883216578832234E07419010
chr157883228778834159E07419132
chr157885705278859300E07443897
chr157879930478800964E081-12191
chr157883228778834159E08119132
chr157885705278859300E08143897
chr157879930478800964E082-12191
chr157883216578832234E08219010
chr157883228778834159E08219132
chr157885705278859300E08243897