rs2963282

Homo sapiens
G>A
LPCAT1 : Intron Variant
MIR6075 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0049 (1490/29934,GnomAD)
A=0064 (1889/29118,TOPMED)
A=0055 (277/5008,1000G)
A=0043 (166/3854,ALSPAC)
A=0043 (159/3708,TWINSUK)
chr5:1512093 (GRCh38.p7) (5p15.33)
AD
GWASdb2
1   publication(s)
See rs on genome
194 Enhancers around
38 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.1512093G>A
GRCh37.p13 chr 5NC_000005.9:g.1512208G>A

Gene: LPCAT1, lysophosphatidylcholine acyltransferase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LPCAT1 transcriptNM_024830.3:c.N/AIntron Variant
LPCAT1 transcript variant X3XM_005248373.3:c.N/AIntron Variant
LPCAT1 transcript variant X1XM_011514132.1:c.N/AGenic Upstream Transcript Variant
LPCAT1 transcript variant X2XM_011514134.1:c.N/AGenic Upstream Transcript Variant
LPCAT1 transcript variant X4XM_017009879.1:c.N/AGenic Upstream Transcript Variant

Gene: MIR6075, microRNA 6075(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
MIR6075 transcriptNR_106723.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.891A=0.109
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=0.998A=0.002
1000GenomesEuropeSub1006G=0.955A=0.045
1000GenomesGlobalStudy-wide5008G=0.945A=0.055
1000GenomesSouth AsianSub978G=0.940A=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.957A=0.043
The Genome Aggregation DatabaseAfricanSub8708G=0.896A=0.104
The Genome Aggregation DatabaseAmericanSub838G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1622G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18464G=0.971A=0.028
The Genome Aggregation DatabaseGlobalStudy-wide29934G=0.950A=0.049
The Genome Aggregation DatabaseOtherSub302G=0.910A=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.935A=0.064
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.957A=0.043
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
rs29632820.00022alcohol dependence20201924

eQTL of rs2963282 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 rs2963282 in Fetal Brain

Probe ID Position Gene beta p-value
cg24621412chr12:13254280GSG10.03550288623117634.9660e-9

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 )
chr514974061497765E067-14443
chr514979251498556E067-13652
chr515058031505931E067-6277
chr515059621506194E067-6014
chr515061991506361E067-5847
chr515217511521931E0679543
chr515220221522072E0679814
chr515535211553583E06741313
chr514974061497765E068-14443
chr514979251498556E068-13652
chr514986071498981E068-13227
chr515011531501216E068-10992
chr515044041504566E068-7642
chr515055681505634E068-6574
chr515058031505931E068-6277
chr515059621506194E068-6014
chr515061991506361E068-5847
chr515065441506905E068-5303
chr515070861507152E068-5056
chr515220221522072E0689814
chr515249501525027E06812742
chr515518111552414E06839603
chr515535211553583E06841313
chr515537401553805E06841532
chr514974061497765E069-14443
chr514979251498556E069-13652
chr514986071498981E069-13227
chr515058031505931E069-6277
chr515065441506905E069-5303
chr515070861507152E069-5056
chr515216391521708E0699431
chr515217511521931E0699543
chr515249501525027E06912742
chr515526041553389E06940396
chr515535211553583E06941313
chr515537401553805E06941532
chr514974061497765E070-14443
chr514979251498556E070-13652
chr514986071498981E070-13227
chr515000251500108E070-12100
chr515001311500207E070-12001
chr515004011500529E070-11679
chr515005951500862E070-11346
chr515011531501216E070-10992
chr515014851501590E070-10618
chr515033181504290E070-7918
chr515055681505634E070-6574
chr515058031505931E070-6277
chr515059621506194E070-6014
chr515061991506361E070-5847
chr515065441506905E070-5303
chr515070861507152E070-5056
chr515077491507897E070-4311
chr515087391508807E070-3401
chr515144801515267E0702272
chr515154021515806E0703194
chr515249501525027E07012742
chr515250511525121E07012843
chr515537401553805E07041532
chr515539131553993E07041705
chr515541461554214E07041938
chr514974061497765E071-14443
chr515000251500108E071-12100
chr515005951500862E071-11346
chr515011531501216E071-10992
chr515055681505634E071-6574
chr515058031505931E071-6277
chr515059621506194E071-6014
chr515061991506361E071-5847
chr515065441506905E071-5303
chr515070861507152E071-5056
chr515220221522072E0719814
chr515418191542570E07129611
chr515442271544358E07132019
chr515535211553583E07141313
chr515537401553805E07141532
chr515539131553993E07141705
chr514795971480218E072-31990
chr514974061497765E072-14443
chr514979251498556E072-13652
chr514986071498981E072-13227
chr515055681505634E072-6574
chr515058031505931E072-6277
chr515059621506194E072-6014
chr515061991506361E072-5847
chr515217511521931E0729543
chr515220221522072E0729814
chr515535211553583E07241313
chr514974061497765E073-14443
chr514979251498556E073-13652
chr514986071498981E073-13227
chr514989961499551E073-12657
chr515055681505634E073-6574
chr515058031505931E073-6277
chr515059621506194E073-6014
chr515061991506361E073-5847
chr515092891509339E073-2869
chr515161331517015E0733925
chr515220221522072E0739814
chr515484271548571E07336219
chr515535211553583E07341313
chr515537401553805E07341532
chr515539131553993E07341705
chr514974061497765E074-14443
chr514979251498556E074-13652
chr514986071498981E074-13227
chr514989961499551E074-12657
chr515027571503276E074-8932
chr515033181504290E074-7918
chr515065441506905E074-5303
chr515070861507152E074-5056
chr515535211553583E07441313
chr515537401553805E07441532
chr514974061497765E081-14443
chr514979251498556E081-13652
chr514989961499551E081-12657
chr515000251500108E081-12100
chr515001311500207E081-12001
chr515004011500529E081-11679
chr515005951500862E081-11346
chr515011531501216E081-10992
chr515055681505634E081-6574
chr515058031505931E081-6277
chr515059621506194E081-6014
chr515061991506361E081-5847
chr515065441506905E081-5303
chr515070861507152E081-5056
chr515144801515267E0812272
chr515154021515806E0813194
chr515159071516042E0813699
chr515217511521931E0819543
chr515220221522072E0819814
chr515249501525027E08112742
chr515409721541033E08128764
chr515414071541559E08129199
chr515418191542570E08129611
chr515429161543215E08130708
chr515450911545444E08132883
chr515455681545639E08133360
chr515458921546339E08133684
chr515464001546650E08134192
chr515467231546863E08134515
chr515471391547228E08134931
chr515484271548571E08136219
chr515503931550464E08138185
chr515518111552414E08139603
chr515526041553389E08140396
chr515535211553583E08141313
chr515537401553805E08141532
chr515539131553993E08141705
chr515541461554214E08141938
chr515548491554947E08142641
chr515550931555327E08142885
chr515554211555844E08143213
chr514974061497765E082-14443
chr514979251498556E082-13652
chr514986071498981E082-13227
chr514989961499551E082-12657
chr515005951500862E082-11346
chr515011531501216E082-10992
chr515055681505634E082-6574
chr515058031505931E082-6277
chr515059621506194E082-6014
chr515061991506361E082-5847
chr515065441506905E082-5303
chr515070861507152E082-5056
chr515077491507897E082-4311
chr515144801515267E0822272
chr515154021515806E0823194
chr515159071516042E0823699
chr515161331517015E0823925
chr515170271517579E0824819
chr515210101521471E0828802
chr515216391521708E0829431
chr515217511521931E0829543
chr515249501525027E08212742
chr515250511525121E08212843
chr515401641540229E08227956
chr515403781540532E08228170
chr515407941540844E08228586
chr515409721541033E08228764
chr515414071541559E08229199
chr515418191542570E08229611
chr515455681545639E08233360
chr515456711545776E08233463
chr515494671549637E08237259
chr515503931550464E08238185
chr515535211553583E08241313
chr515537401553805E08241532
chr515539131553993E08241705
chr515541461554214E08241938
chr515548491554947E08242641
chr515550931555327E08242885
chr515554211555844E08243213










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr515229291523014E06710721
chr515230861523207E06710878
chr515232811523489E06711073
chr515235961524945E06711388
chr515229291523014E06810721
chr515230861523207E06810878
chr515232811523489E06811073
chr515235961524945E06811388
chr515229291523014E06910721
chr515230861523207E06910878
chr515232811523489E06911073
chr515235961524945E06911388
chr515229291523014E07010721
chr515230861523207E07010878
chr515232811523489E07011073
chr515235961524945E07011388
chr515229291523014E07110721
chr515230861523207E07110878
chr515232811523489E07111073
chr515235961524945E07111388
chr515229291523014E07210721
chr515230861523207E07210878
chr515232811523489E07211073
chr515235961524945E07211388
chr515229291523014E07310721
chr515230861523207E07310878
chr515232811523489E07311073
chr515235961524945E07311388
chr515229291523014E07410721
chr515230861523207E07410878
chr515232811523489E07411073
chr515235961524945E07411388
chr515229291523014E08110721
chr515230861523207E08110878
chr515229291523014E08210721
chr515230861523207E08210878
chr515232811523489E08211073
chr515235961524945E08211388