rs2242930

Homo sapiens
G>A
LOC107985484 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0350 (10496/29954,GnomAD)
A=0337 (9838/29118,TOPMED)
A=0358 (1795/5008,1000G)
A=0272 (1049/3854,ALSPAC)
A=0274 (1015/3708,TWINSUK)
chr21:39029033 (GRCh38.p7) (21q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
107 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.39029033G>A
GRCh37.p13 chr 21NC_000021.8:g.40400958G>A

Gene: LOC107985484, uncharacterized LOC107985484(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985484 transcript variant X1XR_001755054.1:n....XR_001755054.1:n.2212C>TC>TNon Coding Transcript Variant
LOC107985484 transcript variant X2XR_001755055.1:n....XR_001755055.1:n.2194C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.543A=0.457
1000GenomesAmericanSub694G=0.700A=0.300
1000GenomesEast AsianSub1008G=0.639A=0.361
1000GenomesEuropeSub1006G=0.717A=0.283
1000GenomesGlobalStudy-wide5008G=0.642A=0.358
1000GenomesSouth AsianSub978G=0.660A=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.728A=0.272
The Genome Aggregation DatabaseAfricanSub8712G=0.568A=0.432
The Genome Aggregation DatabaseAmericanSub838G=0.720A=0.280
The Genome Aggregation DatabaseEast AsianSub1618G=0.586A=0.414
The Genome Aggregation DatabaseEuropeSub18486G=0.690A=0.309
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.649A=0.350
The Genome Aggregation DatabaseOtherSub300G=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.662A=0.337
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.726A=0.274
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
rs22429300.000174alcohol dependence20201924

eQTL of rs2242930 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 rs2242930 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 )
chr214036143840362696E067-38262
chr214043475840434833E06733800
chr214036849240368542E068-32416
chr214036891740368957E068-32001
chr214036904740369190E068-31768
chr214037575740377631E068-23327
chr214037765140377804E068-23154
chr214037806740378148E068-22810
chr214037821840378289E068-22669
chr214037835740379253E068-21705
chr214037936440379499E068-21459
chr214037953640379694E068-21264
chr214037976240379978E068-20980
chr214041209240412209E06811134
chr214041250540412797E06811547
chr214043426640434514E06833308
chr214043463840434728E06833680
chr214043475840434833E06833800
chr214035640340358247E069-42711
chr214036428840364436E069-36522
chr214037575740377631E069-23327
chr214037765140377804E069-23154
chr214042873440428842E06927776
chr214042904040429111E06928082
chr214042924640429559E06928288
chr214035836140358438E070-42520
chr214035851640358560E070-42398
chr214035859540358645E070-42313
chr214035876540359030E070-41928
chr214035913440361287E070-39671
chr214036132740361413E070-39545
chr214036271540362941E070-38017
chr214042829540428702E07027337
chr214042873440428842E07027776
chr214042904040429111E07028082
chr214044453140444688E07043573
chr214044496440445015E07044006
chr214044509740445263E07044139
chr214044553040445582E07044572
chr214044568140446028E07044723
chr214035876540359030E071-41928
chr214035913440361287E071-39671
chr214036132740361413E071-39545
chr214036143840362696E071-38262
chr214036428840364436E071-36522
chr214036447140366436E071-34522
chr214037215840372242E071-28716
chr214037235540372902E071-28056
chr214037575740377631E071-23327
chr214037765140377804E071-23154
chr214037806740378148E071-22810
chr214037821840378289E071-22669
chr214037835740379253E071-21705
chr214038055640380652E071-20306
chr214038070240380742E071-20216
chr214042873440428842E07127776
chr214042904040429111E07128082
chr214042924640429559E07128288
chr214036132740361413E072-39545
chr214036143840362696E072-38262
chr214037575740377631E072-23327
chr214037835740379253E072-21705
chr214036132740361413E073-39545
chr214036143840362696E073-38262
chr214036670240366780E073-34178
chr214036679040366932E073-34026
chr214036725940368135E073-32823
chr214037575740377631E073-23327
chr214037765140377804E073-23154
chr214042698140427040E07326023
chr214042716840427655E07326210
chr214043463840434728E07333680
chr214043475840434833E07333800
chr214043970740439848E07338749
chr214035640340358247E074-42711
chr214035876540359030E074-41928
chr214035913440361287E074-39671
chr214036143840362696E074-38262
chr214036271540362941E074-38017
chr214036318740363340E074-37618
chr214037575740377631E074-23327
chr214037765140377804E074-23154
chr214037806740378148E074-22810
chr214037821840378289E074-22669
chr214038070240380742E074-20216
chr214042829540428702E07427337
chr214042873440428842E07427776
chr214042904040429111E07428082
chr214043426640434514E07433308
chr214043463840434728E07433680
chr214043475840434833E07433800
chr214036143840362696E081-38262
chr214036271540362941E081-38017
chr214044453140444688E08143573
chr214044496440445015E08144006
chr214044509740445263E08144139
chr214044553040445582E08144572
chr214044568140446028E08144723
chr214044605740446122E08145099
chr214035876540359030E082-41928
chr214036143840362696E082-38262
chr214044453140444688E08243573
chr214044496440445015E08244006
chr214044509740445263E08244139
chr214044553040445582E08244572
chr214044568140446028E08244723
chr214044605740446122E08245099