rs4940444

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0398 (11927/29898,GnomAD)
C=0452 (13178/29118,TOPMED)
T==0493 (2467/5008,1000G)
C=0207 (799/3854,ALSPAC)
C=0205 (760/3708,TWINSUK)
chr18:59085268 (GRCh38.p7) (18q21.32)
AD
GWASdb2
1   publication(s)
See rs on genome
95 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.59085268T>C
GRCh37.p13 chr 18NC_000018.9:g.56752500T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.231C=0.769
1000GenomesAmericanSub694T=0.520C=0.480
1000GenomesEast AsianSub1008T=0.340C=0.660
1000GenomesEuropeSub1006T=0.759C=0.241
1000GenomesGlobalStudy-wide5008T=0.493C=0.507
1000GenomesSouth AsianSub978T=0.710C=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.793C=0.207
The Genome Aggregation DatabaseAfricanSub8692T=0.312C=0.688
The Genome Aggregation DatabaseAmericanSub832T=0.530C=0.470
The Genome Aggregation DatabaseEast AsianSub1616T=0.376C=0.624
The Genome Aggregation DatabaseEuropeSub18456T=0.756C=0.243
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.601C=0.398
The Genome Aggregation DatabaseOtherSub302T=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.547C=0.452
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.795C=0.205
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
rs49404440.000892alcohol dependence21314694

eQTL of rs4940444 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 rs4940444 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 )
chr185670833256708430E067-44070
chr185670906756710053E067-42447
chr185673748756738243E067-14257
chr185677661856777013E06724118
chr185670751956707663E068-44837
chr185670779456708163E068-44337
chr185670833256708430E068-44070
chr185670881256708885E068-43615
chr185670906756710053E068-42447
chr185671054256710598E068-41902
chr185673748756738243E068-14257
chr185670271356702845E069-49655
chr185670291456703099E069-49401
chr185670779456708163E069-44337
chr185670833256708430E069-44070
chr185670881256708885E069-43615
chr185670906756710053E069-42447
chr185671895656719447E069-33053
chr185670546756705532E070-46968
chr185670779456708163E070-44337
chr185670833256708430E070-44070
chr185670906756710053E070-42447
chr185671564756715845E070-36655
chr185671690056717447E070-35053
chr185672506156725111E070-27389
chr185672517356725279E070-27221
chr185672530556725586E070-26914
chr185674236056742416E070-10084
chr185674244256742513E070-9987
chr185674252556742575E070-9925
chr185674297756743027E070-9473
chr185674319556743492E070-9008
chr185674351756743604E070-8896
chr185674366456743743E070-8757
chr185674475156744828E070-7672
chr185674493456745032E070-7468
chr185670751956707663E071-44837
chr185670779456708163E071-44337
chr185670833256708430E071-44070
chr185670881256708885E071-43615
chr185670906756710053E071-42447
chr185671895656719447E071-33053
chr185671953156719795E071-32705
chr185674659156746690E071-5810
chr185674675356746807E071-5693
chr185674708256747148E071-5352
chr185675191356751969E071-531
chr185675199856752103E071-397
chr185675212556752177E071-323
chr185670271356702845E072-49655
chr185670291456703099E072-49401
chr185670779456708163E072-44337
chr185670833256708430E072-44070
chr185672506156725111E072-27389
chr185672517356725279E072-27221
chr185673748756738243E072-14257
chr185675191356751969E072-531
chr185675199856752103E072-397
chr185675212556752177E072-323
chr185670751956707663E073-44837
chr185670779456708163E073-44337
chr185670833256708430E073-44070
chr185670906756710053E073-42447
chr185670546756705532E074-46968
chr185670577156705869E074-46631
chr185670751956707663E074-44837
chr185670779456708163E074-44337
chr185670833256708430E074-44070
chr185670881256708885E074-43615
chr185670906756710053E074-42447
chr185671054256710598E074-41902
chr185671060356710715E074-41785
chr185671895656719447E074-33053
chr185673748756738243E074-14257
chr185670881256708885E081-43615
chr185670906756710053E081-42447
chr185671497156715088E081-37412
chr185671549656715546E081-36954
chr185671564756715845E081-36655
chr185671586456715983E081-36517
chr185671639956716522E081-35978
chr185671690056717447E081-35053
chr185671748456717577E081-34923
chr185672517356725279E081-27221
chr185672530556725586E081-26914
chr185673748756738243E081-14257
chr185674799756748332E081-4168
chr185674918056749274E081-3226
chr185675191356751969E081-531
chr185675199856752103E081-397
chr185675212556752177E081-323
chr185675220956752269E081-231
chr185675231256752399E081-101
chr185671480656714895E082-37605
chr185671497156715088E082-37412










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr185675030656751272E067-1228
chr185675132956751882E067-618
chr185675030656751272E068-1228
chr185675132956751882E068-618
chr185675030656751272E069-1228
chr185675132956751882E069-618
chr185675030656751272E071-1228
chr185675030656751272E072-1228
chr185675030656751272E074-1228
chr185675132956751882E074-618
chr185675030656751272E082-1228
chr185675132956751882E082-618