rs3738443

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0122 (3660/29966,GnomAD)
T=0103 (2999/29116,TOPMED)
T=0160 (801/5008,1000G)
T=0169 (650/3854,ALSPAC)
T=0165 (610/3708,TWINSUK)
chr1:247184887 (GRCh38.p7) (1q44)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
26 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.247184887C>T
GRCh37.p13 chr 1NC_000001.10:g.247348189C>T
LOC100131465 pseudogeneNG_022761.1:g.692G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.995T=0.005
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.800T=0.200
1000GenomesEuropeSub1006C=0.830T=0.170
1000GenomesGlobalStudy-wide5008C=0.840T=0.160
1000GenomesSouth AsianSub978C=0.660T=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.831T=0.169
The Genome Aggregation DatabaseAfricanSub8732C=0.968T=0.032
The Genome Aggregation DatabaseAmericanSub836C=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1620C=0.802T=0.198
The Genome Aggregation DatabaseEuropeSub18478C=0.842T=0.157
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.877T=0.122
The Genome Aggregation DatabaseOtherSub300C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.897T=0.103
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.835T=0.165
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
rs37384434E-06alcohol dependence21314694

eQTL of rs3738443 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:247348189RP11-488L18.10ENSG00000259865.1C>T6.3374e-4-3639Cerebellum
Chr1:247348189RP11-488L18.10ENSG00000259865.1C>T7.1313e-3-3639Caudate_basal_ganglia
Chr1:247348189RP11-488L18.10ENSG00000259865.1C>T2.2904e-3-3639Nucleus_accumbens_basal_ganglia

meQTL of rs3738443 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 )
chr1247371125247371175E06722936
chr1247371570247371658E06723381
chr1247372296247372401E06724107
chr1247372520247372570E06724331
chr1247374836247374878E06726647
chr1247332534247332638E068-15551
chr1247372296247372401E06824107
chr1247372520247372570E06824331
chr1247374665247374705E06926476
chr1247374836247374878E06926647
chr1247371570247371658E07123381
chr1247371886247371994E07123697
chr1247374665247374705E07226476
chr1247374836247374878E07226647
chr1247371125247371175E07322936
chr1247371570247371658E07323381
chr1247372296247372401E07324107
chr1247372520247372570E07324331
chr1247374665247374705E07326476
chr1247374836247374878E07326647
chr1247367722247367838E07419533
chr1247371570247371658E07423381
chr1247372296247372401E07424107
chr1247372520247372570E07424331
chr1247372296247372401E08124107
chr1247372520247372570E08124331








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1247373220247374486E06725031
chr1247373220247374486E06825031
chr1247373220247374486E06925031
chr1247373220247374486E07025031
chr1247373220247374486E07125031
chr1247373220247374486E07225031
chr1247373220247374486E07325031
chr1247373220247374486E07425031
chr1247373220247374486E08125031
chr1247373220247374486E08225031