rs4681824

Homo sapiens
T>G
LOC107986091 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0291 (8717/29904,GnomAD)
G=0253 (7392/29118,TOPMED)
G=0273 (1367/5008,1000G)
G=0325 (1253/3854,ALSPAC)
G=0344 (1275/3708,TWINSUK)
chr3:58213942 (GRCh38.p7) (3p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
162 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.58213942T>G
GRCh37.p13 chr 3NC_000003.11:g.58199669T>G
DNASE1L3 RefSeqGeneNG_032070.1:g.2062A>C

Gene: LOC107986091, uncharacterized LOC107986091(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986091 transcriptXR_001740716.1:n....XR_001740716.1:n.703A>CA>CNon Coding Transcript Variant
LOC107986091 transcript variant X2XR_001740717.1:n.N/AGenic Downstream Transcript Variant
LOC107986091 transcript variant X3XR_001740718.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.835G=0.165
1000GenomesAmericanSub694T=0.660G=0.340
1000GenomesEast AsianSub1008T=0.646G=0.354
1000GenomesEuropeSub1006T=0.690G=0.310
1000GenomesGlobalStudy-wide5008T=0.727G=0.273
1000GenomesSouth AsianSub978T=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.675G=0.325
The Genome Aggregation DatabaseAfricanSub8700T=0.811G=0.189
The Genome Aggregation DatabaseAmericanSub836T=0.650G=0.350
The Genome Aggregation DatabaseEast AsianSub1612T=0.641G=0.359
The Genome Aggregation DatabaseEuropeSub18456T=0.669G=0.330
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.708G=0.291
The Genome Aggregation DatabaseOtherSub300T=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.746G=0.253
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.656G=0.344
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs46818240.000688alcohol dependence21314694

eQTL of rs4681824 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:58199669RPP14ENSG00000163684.7T>G9.0474e-8-92305Cerebellum
Chr3:58199669RPP14ENSG00000163684.7T>G2.8665e-2-92305Cerebellar_Hemisphere

meQTL of rs4681824 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 )
chr35815289258153768E067-45901
chr35816091658161822E067-37847
chr35816184058161966E067-37703
chr35822687158227729E06727202
chr35822779258227952E06728123
chr35822973558230314E06730066
chr35823511358235880E06735444
chr35823595658236180E06736287
chr35823735358237877E06737684
chr35824427558244396E06744606
chr35824444258244836E06744773
chr35824566258245768E06745993
chr35824595958246461E06746290
chr35815289258153768E068-45901
chr35815377558153919E068-45750
chr35815401058154062E068-45607
chr35816091658161822E068-37847
chr35817341258173939E068-25730
chr35818424658184322E068-15347
chr35818467458184797E068-14872
chr35822687158227729E06827202
chr35822779258227952E06828123
chr35822973558230314E06830066
chr35823069858230878E06831029
chr35823511358235880E06835444
chr35823595658236180E06836287
chr35823735358237877E06837684
chr35823984558239984E06840176
chr35824427558244396E06844606
chr35824444258244836E06844773
chr35824566258245768E06845993
chr35824595958246461E06846290
chr35824655858246809E06846889
chr35815289258153768E069-45901
chr35815377558153919E069-45750
chr35816073258160913E069-38756
chr35816091658161822E069-37847
chr35822687158227729E06927202
chr35822779258227952E06928123
chr35822973558230314E06930066
chr35823195258232369E06932283
chr35823511358235880E06935444
chr35823595658236180E06936287
chr35823735358237877E06937684
chr35823984558239984E06940176
chr35824427558244396E06944606
chr35824444258244836E06944773
chr35824655858246809E06946889
chr35820265758203554E0702988
chr35822205558222105E07022386
chr35823735358237877E07037684
chr35824566258245768E07045993
chr35824595958246461E07046290
chr35815289258153768E071-45901
chr35816073258160913E071-38756
chr35816184058161966E071-37703
chr35820265758203554E0712988
chr35822021258220272E07120543
chr35822687158227729E07127202
chr35822779258227952E07128123
chr35822801858228418E07128349
chr35822973558230314E07130066
chr35823069858230878E07131029
chr35823195258232369E07132283
chr35823245158232629E07132782
chr35823279858232848E07133129
chr35823511358235880E07135444
chr35823595658236180E07136287
chr35823735358237877E07137684
chr35823984558239984E07140176
chr35824427558244396E07144606
chr35824444258244836E07144773
chr35824566258245768E07145993
chr35824595958246461E07146290
chr35824655858246809E07146889
chr35815289258153768E072-45901
chr35815377558153919E072-45750
chr35816091658161822E072-37847
chr35820265758203554E0722988
chr35822687158227729E07227202
chr35822779258227952E07228123
chr35822973558230314E07230066
chr35823195258232369E07232283
chr35823245158232629E07232782
chr35823279858232848E07233129
chr35823511358235880E07235444
chr35823595658236180E07236287
chr35823735358237877E07237684
chr35823984558239984E07240176
chr35824427558244396E07244606
chr35824444258244836E07244773
chr35824655858246809E07246889
chr35815198058152144E073-47525
chr35815289258153768E073-45901
chr35815377558153919E073-45750
chr35816091658161822E073-37847
chr35822687158227729E07327202
chr35823195258232369E07332283
chr35823511358235880E07335444
chr35823595658236180E07336287
chr35823735358237877E07337684
chr35823984558239984E07340176
chr35824427558244396E07344606
chr35824444258244836E07344773
chr35824595958246461E07346290
chr35824655858246809E07346889
chr35815289258153768E074-45901
chr35815377558153919E074-45750
chr35816091658161822E074-37847
chr35816184058161966E074-37703
chr35816204858162203E074-37466
chr35820265758203554E0742988
chr35822687158227729E07427202
chr35822779258227952E07428123
chr35822973558230314E07430066
chr35823069858230878E07431029
chr35823195258232369E07432283
chr35823511358235880E07435444
chr35823595658236180E07436287
chr35823735358237877E07437684
chr35823984558239984E07440176
chr35824427558244396E07444606
chr35824444258244836E07444773
chr35824566258245768E07445993
chr35824595958246461E07446290
chr35824655858246809E07446889
chr35817490858175105E081-24564
chr35820960558209938E0819936
chr35821020658210256E08110537
chr35821026058210370E08110591
chr35821045258210552E08110783
chr35821573858216266E08116069
chr35821677458216850E08117105
chr35821696358217095E08117294
chr35821715858217231E08117489
chr35821741158217766E08117742
chr35821832258218529E08118653
chr35821862258218787E08118953
chr35822205558222105E08122386
chr35822687158227729E08127202
chr35822779258227952E08128123
chr35823511358235880E08135444
chr35823595658236180E08136287
chr35823735358237877E08137684
chr35824566258245768E08145993
chr35824595958246461E08146290
chr35824655858246809E08146889
chr35821573858216266E08216069
chr35821677458216850E08217105
chr35821696358217095E08217294
chr35821715858217231E08217489
chr35821741158217766E08217742
chr35821862258218787E08218953
chr35822205558222105E08222386
chr35822687158227729E08227202
chr35822779258227952E08228123
chr35823511358235880E08235444
chr35823595658236180E08236287
chr35823735358237877E08237684
chr35823984558239984E08240176
chr35824566258245768E08245993
chr35824595958246461E08246290










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35822263458224439E06722965
chr35822263458224439E06822965
chr35822263458224439E06922965
chr35822263458224439E07022965
chr35822263458224439E07122965
chr35822263458224439E07222965
chr35822263458224439E07322965
chr35822263458224439E07422965
chr35822263458224439E08122965
chr35822263458224439E08222965