rs1046449

Homo sapiens
G>A
AGPAT5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0137 (4119/29966,GnomAD)
A=0133 (3877/29118,TOPMED)
A=0155 (778/5008,1000G)
A=0154 (592/3854,ALSPAC)
A=0157 (582/3708,TWINSUK)
chr8:6758233 (GRCh38.p7) (8p23.1)
ND
GWASdb2
1   publication(s)
See rs on genome
146 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.6758233G>A
GRCh37.p13 chr 8NC_000008.10:g.6615754G>A

Gene: AGPAT5, 1-acylglycerol-3-phosphate O-acyltransferase 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AGPAT5 transcriptNM_018361.3:c.N/A3 Prime UTR Variant
AGPAT5 transcript variant X1XM_011534751.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.924A=0.076
1000GenomesAmericanSub694G=0.790A=0.210
1000GenomesEast AsianSub1008G=0.821A=0.179
1000GenomesEuropeSub1006G=0.851A=0.149
1000GenomesGlobalStudy-wide5008G=0.845A=0.155
1000GenomesSouth AsianSub978G=0.790A=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.846A=0.154
The Genome Aggregation DatabaseAfricanSub8730G=0.906A=0.094
The Genome Aggregation DatabaseAmericanSub834G=0.730A=0.270
The Genome Aggregation DatabaseEast AsianSub1614G=0.806A=0.194
The Genome Aggregation DatabaseEuropeSub18486G=0.853A=0.146
The Genome Aggregation DatabaseGlobalStudy-wide29966G=0.862A=0.137
The Genome Aggregation DatabaseOtherSub302G=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.866A=0.133
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.843A=0.157
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs10464491.14E-05alcohol and nictotine co-dependence20158304

eQTL of rs1046449 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 rs1046449 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 )
chr865911596591295E067-24459
chr866021546602208E067-13546
chr866023376602502E067-13252
chr866025816602631E067-13123
chr866307976631081E06715043
chr866311196631474E06715365
chr866320616632111E06716307
chr866321546632194E06716400
chr866321956632300E06716441
chr866325886632650E06716834
chr866326786632807E06716924
chr865711086571278E068-44476
chr865713346571796E068-43958
chr865900786590258E068-25496
chr865902836590344E068-25410
chr865903556590577E068-25177
chr865906936591135E068-24619
chr865911596591295E068-24459
chr865939536594929E068-20825
chr866018176601934E068-13820
chr866032616603388E068-12366
chr866332216633413E06817467
chr866334806633811E06817726
chr866338776633957E06818123
chr866451976645852E06829443
chr866579706659071E06842216
chr865754266576318E069-39436
chr865900786590258E069-25496
chr865902836590344E069-25410
chr865903556590577E069-25177
chr865906936591135E069-24619
chr865911596591295E069-24459
chr866021546602208E069-13546
chr866023376602502E069-13252
chr866325886632650E06916834
chr866326786632807E06916924
chr866330056633106E06917251
chr866332216633413E06917467
chr866334806633811E06917726
chr866451976645852E06929443
chr866459586646009E06930204
chr866510876651154E06935333
chr865903556590577E070-25177
chr865906936591135E070-24619
chr866073716607949E070-7805
chr866451976645852E07029443
chr866500716650131E07034317
chr866501336650183E07034379
chr866504016650495E07034647
chr866505116650847E07034757
chr865836616583711E071-32043
chr865839706584045E071-31709
chr865841936584377E071-31377
chr865892916589699E071-26055
chr865898036589925E071-25829
chr865906936591135E071-24619
chr865911596591295E071-24459
chr866018176601934E071-13820
chr866021546602208E071-13546
chr866023376602502E071-13252
chr866032616603388E071-12366
chr866311196631474E07115365
chr866314766631855E07115722
chr866318566632013E07116102
chr866320616632111E07116307
chr866321546632194E07116400
chr866321956632300E07116441
chr866330056633106E07117251
chr866332216633413E07117467
chr866334806633811E07117726
chr866367466637848E07120992
chr866451976645852E07129443
chr866516436651683E07135889
chr866517336651787E07135979
chr866520616652245E07136307
chr865867106587283E072-28471
chr865873576587558E072-28196
chr865903556590577E072-25177
chr866073716607949E072-7805
chr866210056621302E0725251
chr866314766631855E07215722
chr866330056633106E07217251
chr866332216633413E07217467
chr866334806633811E07217726
chr866451976645852E07229443
chr866579706659071E07242216
chr865906936591135E073-24619
chr865911596591295E073-24459
chr866018176601934E073-13820
chr866021546602208E073-13546
chr866023376602502E073-13252
chr866073716607949E073-7805
chr866318566632013E07316102
chr866320616632111E07316307
chr866321546632194E07316400
chr866321956632300E07316441
chr866451976645852E07329443
chr866510876651154E07335333
chr866516436651683E07335889
chr866517336651787E07335979
chr866520616652245E07336307
chr866523736652474E07336619
chr865892916589699E074-26055
chr865898036589925E074-25829
chr865900786590258E074-25496
chr865902836590344E074-25410
chr865903556590577E074-25177
chr865906936591135E074-24619
chr865911596591295E074-24459
chr865939536594929E074-20825
chr866006406600712E074-15042
chr866007356600819E074-14935
chr866008276600923E074-14831
chr866018176601934E074-13820
chr866021546602208E074-13546
chr866032616603388E074-12366
chr866045036604570E074-11184
chr866046396604689E074-11065
chr866047666604926E074-10828
chr866314766631855E07415722
chr866318566632013E07416102
chr866320616632111E07416307
chr866321546632194E07416400
chr866321956632300E07416441
chr866325886632650E07416834
chr866326786632807E07416924
chr866332216633413E07417467
chr866334806633811E07417726
chr866338776633957E07418123
chr866442316644328E08128477
chr866443846644424E08128630
chr866444966644563E08128742
chr866449356644985E08129181
chr866451976645852E08129443
chr866459586646009E08130204
chr866504016650495E08134647
chr866505116650847E08134757
chr866579706659071E08142216
chr865906936591135E082-24619
chr866318566632013E08216102
chr866320616632111E08216307
chr866321546632194E08216400
chr866321956632300E08216441
chr866442316644328E08228477
chr866443846644424E08228630
chr866444966644563E08228742










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr865671506567229E067-48525
chr865671506567229E068-48525
chr865671506567229E069-48525
chr865671506567229E070-48525
chr865671506567229E071-48525
chr865671506567229E072-48525
chr865671506567229E073-48525
chr865671506567229E081-48525
chr865671506567229E082-48525