rs10489982

Homo sapiens
T>C
LOC100129029 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0150 (4501/29966,GnomAD)
C=0141 (4109/29118,TOPMED)
C=0113 (564/5008,1000G)
C=0211 (813/3854,ALSPAC)
C=0216 (800/3708,TWINSUK)
chr2:158707938 (GRCh38.p7) (2q24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.158707938T>C
GRCh37.p13 chr 2NC_000002.11:g.159564450T>C

Gene: LOC100129029, uncharacterized LOC100129029(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PKP4-AS1 transcriptNR_135242.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.930C=0.070
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.943C=0.057
1000GenomesEuropeSub1006T=0.789C=0.211
1000GenomesGlobalStudy-wide5008T=0.887C=0.113
1000GenomesSouth AsianSub978T=0.870C=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.789C=0.211
The Genome Aggregation DatabaseAfricanSub8726T=0.909C=0.091
The Genome Aggregation DatabaseAmericanSub834T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1620T=0.973C=0.027
The Genome Aggregation DatabaseEuropeSub18484T=0.812C=0.187
The Genome Aggregation DatabaseGlobalStudy-wide29966T=0.849C=0.150
The Genome Aggregation DatabaseOtherSub302T=0.680C=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.858C=0.141
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.784C=0.216
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
rs104899820.00092alcohol dependence20201924

eQTL of rs10489982 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 rs10489982 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 )
chr2159521992159522054E067-42396
chr2159522132159522882E067-41568
chr2159523934159524035E067-40415
chr2159524101159524369E067-40081
chr2159524495159525316E067-39134
chr2159532960159533026E067-31424
chr2159533346159533476E067-30974
chr2159533687159533742E067-30708
chr2159534076159534377E067-30073
chr2159542219159543461E067-20989
chr2159579084159579164E06714634
chr2159579295159579372E06714845
chr2159579521159579634E06715071
chr2159579890159580018E06715440
chr2159580039159580092E06715589
chr2159580488159580645E06716038
chr2159580655159580768E06716205
chr2159580818159581197E06716368
chr2159581285159581955E06716835
chr2159581986159582383E06717536
chr2159582480159582561E06718030
chr2159583329159583395E06718879
chr2159583442159583546E06718992
chr2159583635159583817E06719185
chr2159586412159586616E06721962
chr2159586741159586932E06722291
chr2159587149159587323E06722699
chr2159601506159602545E06737056
chr2159602700159602767E06738250
chr2159515000159515149E068-49301
chr2159515315159515401E068-49049
chr2159523934159524035E068-40415
chr2159524101159524369E068-40081
chr2159524495159525316E068-39134
chr2159527962159528218E068-36232
chr2159528253159528306E068-36144
chr2159532960159533026E068-31424
chr2159533346159533476E068-30974
chr2159542219159543461E068-20989
chr2159572555159573415E0688105
chr2159573585159573625E0689135
chr2159579084159579164E06814634
chr2159579295159579372E06814845
chr2159579890159580018E06815440
chr2159580039159580092E06815589
chr2159580488159580645E06816038
chr2159580655159580768E06816205
chr2159580818159581197E06816368
chr2159581285159581955E06816835
chr2159581986159582383E06817536
chr2159582480159582561E06818030
chr2159583329159583395E06818879
chr2159583442159583546E06818992
chr2159583635159583817E06819185
chr2159584871159584929E06820421
chr2159585360159585578E06820910
chr2159585632159585690E06821182
chr2159585815159585891E06821365
chr2159585992159586048E06821542
chr2159586172159586237E06821722
chr2159586412159586616E06821962
chr2159586741159586932E06822291
chr2159587149159587323E06822699
chr2159587988159588080E06823538
chr2159599168159599218E06834718
chr2159599369159599590E06834919
chr2159600110159600383E06835660
chr2159600434159600777E06835984
chr2159602700159602767E06838250
chr2159523934159524035E069-40415
chr2159524101159524369E069-40081
chr2159524495159525316E069-39134
chr2159527962159528218E069-36232
chr2159528253159528306E069-36144
chr2159532960159533026E069-31424
chr2159533346159533476E069-30974
chr2159573585159573625E0699135
chr2159574010159574111E0699560
chr2159579084159579164E06914634
chr2159579295159579372E06914845
chr2159579521159579634E06915071
chr2159579890159580018E06915440
chr2159580039159580092E06915589
chr2159580488159580645E06916038
chr2159580655159580768E06916205
chr2159580818159581197E06916368
chr2159581285159581955E06916835
chr2159581986159582383E06917536
chr2159582480159582561E06918030
chr2159583329159583395E06918879
chr2159583442159583546E06918992
chr2159583635159583817E06919185
chr2159584871159584929E06920421
chr2159585360159585578E06920910
chr2159585632159585690E06921182
chr2159585815159585891E06921365
chr2159585992159586048E06921542
chr2159586172159586237E06921722
chr2159586412159586616E06921962
chr2159586741159586932E06922291
chr2159587149159587323E06922699
chr2159599168159599218E06934718
chr2159599369159599590E06934919
chr2159600110159600383E06935660
chr2159600434159600777E06935984
chr2159602700159602767E06938250
chr2159521992159522054E070-42396
chr2159522132159522882E070-41568
chr2159522975159523025E070-41425
chr2159527962159528218E070-36232
chr2159528253159528306E070-36144
chr2159532960159533026E070-31424
chr2159533346159533476E070-30974
chr2159533687159533742E070-30708
chr2159534076159534377E070-30073
chr2159534561159534617E070-29833
chr2159542219159543461E070-20989
chr2159572555159573415E0708105
chr2159573585159573625E0709135
chr2159579521159579634E07015071
chr2159579890159580018E07015440
chr2159580039159580092E07015589
chr2159600110159600383E07035660
chr2159600434159600777E07035984
chr2159601506159602545E07037056
chr2159521593159521786E071-42664
chr2159521992159522054E071-42396
chr2159522132159522882E071-41568
chr2159522975159523025E071-41425
chr2159523934159524035E071-40415
chr2159524101159524369E071-40081
chr2159532960159533026E071-31424
chr2159533346159533476E071-30974
chr2159533687159533742E071-30708
chr2159542219159543461E071-20989
chr2159579084159579164E07114634
chr2159579295159579372E07114845
chr2159579890159580018E07115440
chr2159580039159580092E07115589
chr2159580488159580645E07116038
chr2159580655159580768E07116205
chr2159580818159581197E07116368
chr2159581285159581955E07116835
chr2159581986159582383E07117536
chr2159582480159582561E07118030
chr2159583442159583546E07118992
chr2159583635159583817E07119185
chr2159584871159584929E07120421
chr2159585360159585578E07120910
chr2159585632159585690E07121182
chr2159585815159585891E07121365
chr2159585992159586048E07121542
chr2159586172159586237E07121722
chr2159586412159586616E07121962
chr2159586741159586932E07122291
chr2159587149159587323E07122699
chr2159600110159600383E07135660
chr2159600434159600777E07135984
chr2159602700159602767E07138250
chr2159521593159521786E072-42664
chr2159521992159522054E072-42396
chr2159522132159522882E072-41568
chr2159522975159523025E072-41425
chr2159523934159524035E072-40415
chr2159524101159524369E072-40081
chr2159527962159528218E072-36232
chr2159528253159528306E072-36144
chr2159533346159533476E072-30974
chr2159542219159543461E072-20989
chr2159574010159574111E0729560
chr2159579084159579164E07214634
chr2159579890159580018E07215440
chr2159580039159580092E07215589
chr2159580488159580645E07216038
chr2159581285159581955E07216835
chr2159581986159582383E07217536
chr2159582480159582561E07218030
chr2159583329159583395E07218879
chr2159583442159583546E07218992
chr2159583635159583817E07219185
chr2159585632159585690E07221182
chr2159585815159585891E07221365
chr2159585992159586048E07221542
chr2159586172159586237E07221722
chr2159586412159586616E07221962
chr2159586741159586932E07222291
chr2159587149159587323E07222699
chr2159599369159599590E07234919
chr2159600110159600383E07235660
chr2159600434159600777E07235984
chr2159602700159602767E07238250
chr2159523934159524035E073-40415
chr2159524101159524369E073-40081
chr2159527962159528218E073-36232
chr2159528253159528306E073-36144
chr2159533346159533476E073-30974
chr2159542219159543461E073-20989
chr2159579084159579164E07314634
chr2159579295159579372E07314845
chr2159579521159579634E07315071
chr2159579890159580018E07315440
chr2159580039159580092E07315589
chr2159580488159580645E07316038
chr2159580655159580768E07316205
chr2159580818159581197E07316368
chr2159582480159582561E07318030
chr2159583329159583395E07318879
chr2159600110159600383E07335660
chr2159600434159600777E07335984
chr2159601506159602545E07337056
chr2159527962159528218E074-36232
chr2159528253159528306E074-36144
chr2159532960159533026E074-31424
chr2159533346159533476E074-30974
chr2159542219159543461E074-20989
chr2159572555159573415E0748105
chr2159579084159579164E07414634
chr2159579295159579372E07414845
chr2159579521159579634E07415071
chr2159579890159580018E07415440
chr2159580039159580092E07415589
chr2159581285159581955E07416835
chr2159581986159582383E07417536
chr2159582480159582561E07418030
chr2159583329159583395E07418879
chr2159583442159583546E07418992
chr2159583635159583817E07419185
chr2159584871159584929E07420421
chr2159585815159585891E07421365
chr2159585992159586048E07421542
chr2159586172159586237E07421722
chr2159586412159586616E07421962
chr2159586741159586932E07422291
chr2159587149159587323E07422699
chr2159600110159600383E07435660
chr2159600434159600777E07435984
chr2159602700159602767E07438250
chr2159520098159520235E081-44215
chr2159521593159521786E081-42664
chr2159521992159522054E081-42396
chr2159522132159522882E081-41568
chr2159522975159523025E081-41425
chr2159532960159533026E081-31424
chr2159601506159602545E08137056
chr2159611850159612222E08147400
chr2159612327159612538E08147877
chr2159521593159521786E082-42664
chr2159521992159522054E082-42396
chr2159522132159522882E082-41568
chr2159522975159523025E082-41425
chr2159601506159602545E08237056
chr2159611850159612222E08247400
chr2159612327159612538E08247877