rs4551123

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0059 (1792/29960,GnomAD)
G=0070 (2058/29118,TOPMED)
G=0062 (312/5008,1000G)
G=0069 (265/3854,ALSPAC)
G=0069 (256/3708,TWINSUK)
chr5:1536142 (GRCh38.p7) (5p15.33)
AD
GWASdb2
1   publication(s)
See rs on genome
199 Enhancers around
38 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.1536142A>G
GRCh37.p13 chr 5NC_000005.9:g.1536257A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.904G=0.096
1000GenomesAmericanSub694A=0.950G=0.050
1000GenomesEast AsianSub1008A=0.992G=0.008
1000GenomesEuropeSub1006A=0.936G=0.064
1000GenomesGlobalStudy-wide5008A=0.938G=0.062
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.931G=0.069
The Genome Aggregation DatabaseAfricanSub8724A=0.901G=0.099
The Genome Aggregation DatabaseAmericanSub838A=0.960G=0.040
The Genome Aggregation DatabaseEast AsianSub1618A=0.990G=0.010
The Genome Aggregation DatabaseEuropeSub18478A=0.954G=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29960A=0.940G=0.059
The Genome Aggregation DatabaseOtherSub302A=0.890G=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.929G=0.070
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.931G=0.069
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
rs45511230.000043alcohol dependence20201924
rs45511230.0000431alcoholismpha002893
rs45511230.00069alcohol dependence(early age of onset)20201924

eQTL of rs4551123 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 rs4551123 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 )
chr514974061497765E067-38492
chr514979251498556E067-37701
chr515058031505931E067-30326
chr515059621506194E067-30063
chr515061991506361E067-29896
chr515217511521931E067-14326
chr515220221522072E067-14185
chr515535211553583E06717264
chr514974061497765E068-38492
chr514979251498556E068-37701
chr514986071498981E068-37276
chr515011531501216E068-35041
chr515044041504566E068-31691
chr515055681505634E068-30623
chr515058031505931E068-30326
chr515059621506194E068-30063
chr515061991506361E068-29896
chr515065441506905E068-29352
chr515070861507152E068-29105
chr515220221522072E068-14185
chr515249501525027E068-11230
chr515518111552414E06815554
chr515535211553583E06817264
chr515537401553805E06817483
chr514974061497765E069-38492
chr514979251498556E069-37701
chr514986071498981E069-37276
chr515058031505931E069-30326
chr515065441506905E069-29352
chr515070861507152E069-29105
chr515216391521708E069-14549
chr515217511521931E069-14326
chr515249501525027E069-11230
chr515526041553389E06916347
chr515535211553583E06917264
chr515537401553805E06917483
chr514974061497765E070-38492
chr514979251498556E070-37701
chr514986071498981E070-37276
chr515000251500108E070-36149
chr515001311500207E070-36050
chr515004011500529E070-35728
chr515005951500862E070-35395
chr515011531501216E070-35041
chr515014851501590E070-34667
chr515033181504290E070-31967
chr515055681505634E070-30623
chr515058031505931E070-30326
chr515059621506194E070-30063
chr515061991506361E070-29896
chr515065441506905E070-29352
chr515070861507152E070-29105
chr515077491507897E070-28360
chr515087391508807E070-27450
chr515144801515267E070-20990
chr515154021515806E070-20451
chr515249501525027E070-11230
chr515250511525121E070-11136
chr515537401553805E07017483
chr515539131553993E07017656
chr515541461554214E07017889
chr514974061497765E071-38492
chr515000251500108E071-36149
chr515005951500862E071-35395
chr515011531501216E071-35041
chr515055681505634E071-30623
chr515058031505931E071-30326
chr515059621506194E071-30063
chr515061991506361E071-29896
chr515065441506905E071-29352
chr515070861507152E071-29105
chr515220221522072E071-14185
chr515418191542570E0715562
chr515442271544358E0717970
chr515535211553583E07117264
chr515537401553805E07117483
chr515539131553993E07117656
chr515682011568278E07131944
chr515682861569068E07132029
chr514974061497765E072-38492
chr514979251498556E072-37701
chr514986071498981E072-37276
chr515055681505634E072-30623
chr515058031505931E072-30326
chr515059621506194E072-30063
chr515061991506361E072-29896
chr515217511521931E072-14326
chr515220221522072E072-14185
chr515535211553583E07217264
chr514974061497765E073-38492
chr514979251498556E073-37701
chr514986071498981E073-37276
chr514989961499551E073-36706
chr515055681505634E073-30623
chr515058031505931E073-30326
chr515059621506194E073-30063
chr515061991506361E073-29896
chr515092891509339E073-26918
chr515161331517015E073-19242
chr515220221522072E073-14185
chr515484271548571E07312170
chr515535211553583E07317264
chr515537401553805E07317483
chr515539131553993E07317656
chr515661181566193E07329861
chr515666041566664E07330347
chr515682011568278E07331944
chr515682861569068E07332029
chr514974061497765E074-38492
chr514979251498556E074-37701
chr514986071498981E074-37276
chr514989961499551E074-36706
chr515027571503276E074-32981
chr515033181504290E074-31967
chr515065441506905E074-29352
chr515070861507152E074-29105
chr515535211553583E07417264
chr515537401553805E07417483
chr514974061497765E081-38492
chr514979251498556E081-37701
chr514989961499551E081-36706
chr515000251500108E081-36149
chr515001311500207E081-36050
chr515004011500529E081-35728
chr515005951500862E081-35395
chr515011531501216E081-35041
chr515055681505634E081-30623
chr515058031505931E081-30326
chr515059621506194E081-30063
chr515061991506361E081-29896
chr515065441506905E081-29352
chr515070861507152E081-29105
chr515144801515267E081-20990
chr515154021515806E081-20451
chr515159071516042E081-20215
chr515217511521931E081-14326
chr515220221522072E081-14185
chr515249501525027E081-11230
chr515409721541033E0814715
chr515414071541559E0815150
chr515418191542570E0815562
chr515429161543215E0816659
chr515450911545444E0818834
chr515455681545639E0819311
chr515458921546339E0819635
chr515464001546650E08110143
chr515467231546863E08110466
chr515471391547228E08110882
chr515484271548571E08112170
chr515503931550464E08114136
chr515518111552414E08115554
chr515526041553389E08116347
chr515535211553583E08117264
chr515537401553805E08117483
chr515539131553993E08117656
chr515541461554214E08117889
chr515548491554947E08118592
chr515550931555327E08118836
chr515554211555844E08119164
chr514974061497765E082-38492
chr514979251498556E082-37701
chr514986071498981E082-37276
chr514989961499551E082-36706
chr515005951500862E082-35395
chr515011531501216E082-35041
chr515055681505634E082-30623
chr515058031505931E082-30326
chr515059621506194E082-30063
chr515061991506361E082-29896
chr515065441506905E082-29352
chr515070861507152E082-29105
chr515077491507897E082-28360
chr515144801515267E082-20990
chr515154021515806E082-20451
chr515159071516042E082-20215
chr515161331517015E082-19242
chr515170271517579E082-18678
chr515210101521471E082-14786
chr515216391521708E082-14549
chr515217511521931E082-14326
chr515249501525027E082-11230
chr515250511525121E082-11136
chr515401641540229E0823907
chr515403781540532E0824121
chr515407941540844E0824537
chr515409721541033E0824715
chr515414071541559E0825150
chr515418191542570E0825562
chr515455681545639E0829311
chr515456711545776E0829414
chr515494671549637E08213210
chr515503931550464E08214136
chr515535211553583E08217264
chr515537401553805E08217483
chr515539131553993E08217656
chr515541461554214E08217889
chr515548491554947E08218592
chr515550931555327E08218836
chr515554211555844E08219164










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr515229291523014E067-13243
chr515230861523207E067-13050
chr515232811523489E067-12768
chr515235961524945E067-11312
chr515229291523014E068-13243
chr515230861523207E068-13050
chr515232811523489E068-12768
chr515235961524945E068-11312
chr515229291523014E069-13243
chr515230861523207E069-13050
chr515232811523489E069-12768
chr515235961524945E069-11312
chr515229291523014E070-13243
chr515230861523207E070-13050
chr515232811523489E070-12768
chr515235961524945E070-11312
chr515229291523014E071-13243
chr515230861523207E071-13050
chr515232811523489E071-12768
chr515235961524945E071-11312
chr515229291523014E072-13243
chr515230861523207E072-13050
chr515232811523489E072-12768
chr515235961524945E072-11312
chr515229291523014E073-13243
chr515230861523207E073-13050
chr515232811523489E073-12768
chr515235961524945E073-11312
chr515229291523014E074-13243
chr515230861523207E074-13050
chr515232811523489E074-12768
chr515235961524945E074-11312
chr515229291523014E081-13243
chr515230861523207E081-13050
chr515229291523014E082-13243
chr515230861523207E082-13050
chr515232811523489E082-12768
chr515235961524945E082-11312