rs11217974

Homo sapiens
A>G
GRIK4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0358 (10721/29898,GnomAD)
G=0368 (10737/29118,TOPMED)
G=0354 (1774/5008,1000G)
G=0338 (1304/3854,ALSPAC)
G=0319 (1181/3708,TWINSUK)
chr11:120691780 (GRCh38.p7) (11q23.3)
ND
GWASdb2
1   publication(s)
See rs on genome
147 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.120691780A>G
GRCh37.p13 chr 11NC_000011.9:g.120562489A>G
GRIK4 RefSeqGene LRG_1012

Gene: GRIK4, glutamate ionotropic receptor kainate type subunit 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GRIK4 transcript variant 1NM_001282470.2:c.N/AIntron Variant
GRIK4 transcript variant 3NM_001282473.2:c.N/AIntron Variant
GRIK4 transcript variant 2NM_014619.4:c.N/AIntron Variant
GRIK4 transcript variant X1XM_011542784.1:c.N/AIntron Variant
GRIK4 transcript variant X2XM_017017621.1:c.N/AIntron Variant
GRIK4 transcript variant X3XM_017017622.1:c.N/AIntron Variant
GRIK4 transcript variant X4XM_011542786.2:c.N/AGenic Upstream Transcript Variant
GRIK4 transcript variant X5XM_011542787.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.551G=0.449
1000GenomesAmericanSub694A=0.590G=0.410
1000GenomesEast AsianSub1008A=0.653G=0.347
1000GenomesEuropeSub1006A=0.659G=0.341
1000GenomesGlobalStudy-wide5008A=0.646G=0.354
1000GenomesSouth AsianSub978A=0.790G=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.662G=0.338
The Genome Aggregation DatabaseAfricanSub8700A=0.583G=0.417
The Genome Aggregation DatabaseAmericanSub836A=0.670G=0.330
The Genome Aggregation DatabaseEast AsianSub1610A=0.620G=0.380
The Genome Aggregation DatabaseEuropeSub18452A=0.670G=0.329
The Genome Aggregation DatabaseGlobalStudy-wide29898A=0.641G=0.358
The Genome Aggregation DatabaseOtherSub300A=0.580G=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.631G=0.368
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.681G=0.319
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
rs112179740.000556nicotine smoking19268276

eQTL of rs11217974 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 rs11217974 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 )
chr11120512606120512767E067-49722
chr11120512832120512882E067-49607
chr11120513045120513140E067-49349
chr11120513350120513501E067-48988
chr11120513653120513707E067-48782
chr11120514128120514230E067-48259
chr11120580736120580859E06718247
chr11120580933120581892E06718444
chr11120581900120581960E06719411
chr11120582155120582218E06719666
chr11120609597120609667E06747108
chr11120610101120610151E06747612
chr11120610530120610840E06748041
chr11120610955120611105E06748466
chr11120611132120611202E06748643
chr11120611336120611513E06748847
chr11120552086120552170E068-10319
chr11120552231120552442E068-10047
chr11120552457120552595E068-9894
chr11120552605120552687E068-9802
chr11120580736120580859E06818247
chr11120580933120581892E06818444
chr11120581900120581960E06819411
chr11120582155120582218E06819666
chr11120609597120609667E06847108
chr11120610101120610151E06847612
chr11120610530120610840E06848041
chr11120610955120611105E06848466
chr11120611132120611202E06848643
chr11120611336120611513E06848847
chr11120512606120512767E069-49722
chr11120512832120512882E069-49607
chr11120513045120513140E069-49349
chr11120513350120513501E069-48988
chr11120513653120513707E069-48782
chr11120514128120514230E069-48259
chr11120519857120519916E069-42573
chr11120544396120544490E069-17999
chr11120547637120547714E069-14775
chr11120547715120547755E069-14734
chr11120547813120547961E069-14528
chr11120548003120548214E069-14275
chr11120580736120580859E06918247
chr11120580933120581892E06918444
chr11120581900120581960E06919411
chr11120582155120582218E06919666
chr11120609344120609487E06946855
chr11120609597120609667E06947108
chr11120610101120610151E06947612
chr11120610530120610840E06948041
chr11120610955120611105E06948466
chr11120611132120611202E06948643
chr11120611336120611513E06948847
chr11120551837120551891E070-10598
chr11120552086120552170E070-10319
chr11120552231120552442E070-10047
chr11120552457120552595E070-9894
chr11120552605120552687E070-9802
chr11120552710120553096E070-9393
chr11120580933120581892E07018444
chr11120581900120581960E07019411
chr11120610101120610151E07047612
chr11120513653120513707E071-48782
chr11120514128120514230E071-48259
chr11120514273120514504E071-47985
chr11120544396120544490E071-17999
chr11120580420120580467E07117931
chr11120580522120580594E07118033
chr11120580736120580859E07118247
chr11120580933120581892E07118444
chr11120581900120581960E07119411
chr11120582155120582218E07119666
chr11120582524120582766E07120035
chr11120582873120582917E07120384
chr11120586300120586461E07123811
chr11120609344120609487E07146855
chr11120609597120609667E07147108
chr11120610101120610151E07147612
chr11120610530120610840E07148041
chr11120610955120611105E07148466
chr11120611132120611202E07148643
chr11120611336120611513E07148847
chr11120513350120513501E072-48988
chr11120513653120513707E072-48782
chr11120514128120514230E072-48259
chr11120514273120514504E072-47985
chr11120514552120514639E072-47850
chr11120530147120530197E072-32292
chr11120544396120544490E072-17999
chr11120567395120567753E0724906
chr11120567906120567970E0725417
chr11120580736120580859E07218247
chr11120580933120581892E07218444
chr11120581900120581960E07219411
chr11120582155120582218E07219666
chr11120585689120585801E07223200
chr11120585881120585971E07223392
chr11120609344120609487E07246855
chr11120609597120609667E07247108
chr11120610101120610151E07247612
chr11120610530120610840E07248041
chr11120610955120611105E07248466
chr11120611132120611202E07248643
chr11120611336120611513E07248847
chr11120512606120512767E073-49722
chr11120512832120512882E073-49607
chr11120513045120513140E073-49349
chr11120513350120513501E073-48988
chr11120513653120513707E073-48782
chr11120530259120530318E073-32171
chr11120530345120530389E073-32100
chr11120532824120533318E073-29171
chr11120547637120547714E073-14775
chr11120547715120547755E073-14734
chr11120547813120547961E073-14528
chr11120580933120581892E07318444
chr11120581900120581960E07319411
chr11120582155120582218E07319666
chr11120609344120609487E07346855
chr11120609597120609667E07347108
chr11120610955120611105E07348466
chr11120611132120611202E07348643
chr11120611336120611513E07348847
chr11120513350120513501E074-48988
chr11120513653120513707E074-48782
chr11120514128120514230E074-48259
chr11120544396120544490E074-17999
chr11120552231120552442E074-10047
chr11120552457120552595E074-9894
chr11120580736120580859E07418247
chr11120580933120581892E07418444
chr11120581900120581960E07419411
chr11120582155120582218E07419666
chr11120582524120582766E07420035
chr11120609344120609487E07446855
chr11120609597120609667E07447108
chr11120610101120610151E07447612
chr11120610530120610840E07448041
chr11120610955120611105E07448466
chr11120611132120611202E07448643
chr11120611336120611513E07448847
chr11120512606120512767E081-49722
chr11120512832120512882E081-49607
chr11120513045120513140E081-49349
chr11120513350120513501E081-48988
chr11120552086120552170E082-10319
chr11120552231120552442E082-10047