rs3786047

Homo sapiens
A>G
ARRB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0372 (11140/29876,GnomAD)
A==0447 (13018/29118,TOPMED)
A==0339 (1699/5008,1000G)
A==0302 (1162/3854,ALSPAC)
A==0317 (1174/3708,TWINSUK)
chr17:4711803 (GRCh38.p7) (17p13.2)
AD
GWASdb2
5   publication(s)
See rs on genome
32 Enhancers around
43 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.4711803A>G
GRCh37.p13 chr 17NC_000017.10:g.4615098A>G

Gene: ARRB2, arrestin beta 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARRB2 transcript variant 3NM_001257328.1:c.N/AIntron Variant
ARRB2 transcript variant 4NM_001257329.1:c.N/AIntron Variant
ARRB2 transcript variant 5NM_001257330.1:c.N/AIntron Variant
ARRB2 transcript variant 6NM_001257331.1:c.N/AIntron Variant
ARRB2 transcript variant 1NM_004313.3:c.N/AIntron Variant
ARRB2 transcript variant 2NM_199004.1:c.N/AIntron Variant
ARRB2 transcript variant 7NR_047516.1:n.N/AIntron Variant
ARRB2 transcript variant X2XM_006721520.1:c.N/AIntron Variant
ARRB2 transcript variant X1XM_011523858.2:c.N/AIntron Variant
ARRB2 transcript variant X5XM_017024645.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.635G=0.365
1000GenomesAmericanSub694A=0.280G=0.720
1000GenomesEast AsianSub1008A=0.170G=0.830
1000GenomesEuropeSub1006A=0.315G=0.685
1000GenomesGlobalStudy-wide5008A=0.339G=0.661
1000GenomesSouth AsianSub978A=0.180G=0.820
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.302G=0.698
The Genome Aggregation DatabaseAfricanSub8686A=0.585G=0.415
The Genome Aggregation DatabaseAmericanSub836A=0.270G=0.730
The Genome Aggregation DatabaseEast AsianSub1620A=0.206G=0.794
The Genome Aggregation DatabaseEuropeSub18432A=0.293G=0.706
The Genome Aggregation DatabaseGlobalStudy-wide29876A=0.372G=0.627
The Genome Aggregation DatabaseOtherSub302A=0.330G=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.447G=0.552
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.317G=0.683
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
20514076beta-Arrestin2 influences the response to methadone in opioid-dependent patients.Oneda BPharmacogenomics J
22472784Association study of the beta-arrestin 2 gene (ARRB2) with opioid and cocaine dependence in a European-American population.Ambrose-Lanci LMPsychiatr Genet
17579607Beta-arrestins 1 and 2 are associated with nicotine dependence in European American smokers.Sun DMol Psychiatry
24635845The genetic variation of ARRB2 is associated with late-onset Alzheimer's disease in Han Chinese.Jiang TCurr Alzheimer Res

P-Value

SNP ID p-value Traits Study
rs37860470.000101alcohol dependence20201924

eQTL of rs3786047 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:4615098ALOX15ENSG00000161905.8A>G3.7844e-969509Cerebellum
Chr17:4615098ALOX15ENSG00000161905.8A>G9.8439e-769509Hypothalamus
Chr17:4615098ALOX15ENSG00000161905.8A>G7.5914e-1069509Cortex
Chr17:4615098ALOX15ENSG00000161905.8A>G1.3738e-869509Anterior_cingulate_cortex

meQTL of rs3786047 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 )
chr1746059934606164E067-8934
chr1746082854608402E068-6696
chr1746359094636292E06820811
chr1746363644636551E06821266
chr1745944044594444E069-20654
chr1745945494594602E069-20496
chr1746057114605824E069-9274
chr1746058384605906E069-9192
chr1746059934606164E069-8934
chr1746048844604940E070-10158
chr1746049744605024E070-10074
chr1746050374605148E070-9950
chr1746052594605327E070-9771
chr1746057114605824E070-9274
chr1746058384605906E070-9192
chr1746059934606164E070-8934
chr1746050374605148E071-9950
chr1746057114605824E071-9274
chr1746058384605906E071-9192
chr1746059934606164E071-8934
chr1746190994619198E0714001
chr1746439234643973E07128825
chr1746059934606164E072-8934
chr1746082854608402E072-6696
chr1746082854608402E073-6696
chr1746356944635744E07420596
chr1746359094636292E07420811
chr1745710024571411E081-43687
chr1746059934606164E081-8934
chr1746082854608402E081-6696
chr1746057114605824E082-9274
chr1746058384605906E082-9192










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1746067034607788E067-7310
chr1746078194607923E067-7175
chr1746336904635395E06718592
chr1746414924643765E06726394
chr1746067034607788E068-7310
chr1746078194607923E068-7175
chr1746336904635395E06818592
chr1746414924643765E06826394
chr1746067034607788E069-7310
chr1746078194607923E069-7175
chr1746080624608164E069-6934
chr1746336904635395E06918592
chr1746414924643765E06926394
chr1746067034607788E070-7310
chr1746078194607923E070-7175
chr1746080624608164E070-6934
chr1746336904635395E07018592
chr1746067034607788E071-7310
chr1746078194607923E071-7175
chr1746080624608164E071-6934
chr1746336904635395E07118592
chr1746414924643765E07126394
chr1746067034607788E072-7310
chr1746078194607923E072-7175
chr1746080624608164E072-6934
chr1746336904635395E07218592
chr1746414924643765E07226394
chr1746067034607788E073-7310
chr1746078194607923E073-7175
chr1746080624608164E073-6934
chr1746336904635395E07318592
chr1746414924643765E07326394
chr1746067034607788E074-7310
chr1746078194607923E074-7175
chr1746336904635395E07418592
chr1746414924643765E07426394
chr1746483894649039E07433291
chr1746067034607788E081-7310
chr1746336904635395E08118592
chr1746067034607788E082-7310
chr1746078194607923E082-7175
chr1746080624608164E082-6934
chr1746336904635395E08218592