rs4966017

Homo sapiens
T>A / T>C / T>G
IGF1R : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0119 (3586/29922,GnomAD)
T==0137 (4014/29118,TOPMED)
T==0168 (839/5008,1000G)
T==0061 (236/3854,ALSPAC)
T==0066 (243/3708,TWINSUK)
chr15:98724404 (GRCh38.p7) (15q26.3)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.98724404T>A
GRCh38.p7 chr 15NC_000015.10:g.98724404T>C
GRCh38.p7 chr 15NC_000015.10:g.98724404T>G
GRCh37.p13 chr 15NC_000015.9:g.99267633T>A
GRCh37.p13 chr 15NC_000015.9:g.99267633T>C
GRCh37.p13 chr 15NC_000015.9:g.99267633T>G
IGF1R RefSeqGeneNG_009492.1:g.79873T>A
IGF1R RefSeqGeneNG_009492.1:g.79873T>C
IGF1R RefSeqGeneNG_009492.1:g.79873T>G

Gene: IGF1R, insulin like growth factor 1 receptor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
IGF1R transcript variant 1NM_000875.4:c.N/AIntron Variant
IGF1R transcript variant 2NM_001291858.1:c.N/AIntron Variant
IGF1R transcript variant X1XM_017022136.1:c.N/AIntron Variant
IGF1R transcript variant X2XM_017022137.1:c.N/AIntron Variant
IGF1R transcript variant X3XM_017022138.1:c.N/AIntron Variant
IGF1R transcript variant X4XM_017022139.1:c.N/AIntron Variant
IGF1R transcript variant X6XM_011521516.2:c.N/AGenic Upstream Transcript Variant
IGF1R transcript variant X7XM_011521517.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.217G=0.783
1000GenomesAmericanSub694T=0.220G=0.780
1000GenomesEast AsianSub1008T=0.196G=0.804
1000GenomesEuropeSub1006T=0.072G=0.928
1000GenomesGlobalStudy-wide5008T=0.168G=0.832
1000GenomesSouth AsianSub978T=0.130G=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.061G=0.939
The Genome Aggregation DatabaseAfricanSub8696T=0.189G=0.811
The Genome Aggregation DatabaseAmericanSub838T=0.230G=0.770
The Genome Aggregation DatabaseEast AsianSub1616T=0.202G=0.798
The Genome Aggregation DatabaseEuropeSub18470T=0.076G=0.923
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.119G=0.880
The Genome Aggregation DatabaseOtherSub302T=0.060G=0.940
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.137G=0.862
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.066G=0.934
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs49660170.000064alcoholismpha002891
rs49660170.000064alcohol dependence20201924

eQTL of rs4966017 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 rs4966017 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 )
chr158583281585832873E06737197
chr158583287485833298E07037256
chr158583336585833730E07037747
chr158583391485833976E07038296
chr158583414285834215E07038524
chr158583972085840532E07044102
chr158583955885839630E07443940
chr158583391485833976E08238296




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr158577781585777917E068-17701
chr158577819085778270E068-17348
chr158577718985777260E070-18358
chr158577736885777429E070-18189
chr158577781585777917E070-17701
chr158577736885777429E071-18189
chr158577781585777917E071-17701
chr158577819085778270E071-17348
chr158577705085777104E082-18514
chr158577718985777260E082-18358
chr158577736885777429E082-18189
chr158577781585777917E082-17701
chr158577819085778270E082-17348
chr158577844185778500E082-17118