rs7238552

Homo sapiens
C>T
LOC101928144 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0066 (1988/29956,GnomAD)
T=0085 (2474/29118,TOPMED)
T=0057 (284/5008,1000G)
T=0033 (129/3854,ALSPAC)
T=0036 (134/3708,TWINSUK)
chr18:49511029 (GRCh38.p7) (18q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.49511029C>T
GRCh37.p13 chr 18NC_000018.9:g.47037399C>T

Gene: LOC101928144, uncharacterized LOC101928144(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101928144 transcript variant X2XR_935460.1:n.N/AIntron Variant
LOC101928144 transcript variant X1XR_243880.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.828T=0.172
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.967T=0.033
1000GenomesGlobalStudy-wide5008C=0.943T=0.057
1000GenomesSouth AsianSub978C=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.967T=0.033
The Genome Aggregation DatabaseAfricanSub8726C=0.839T=0.161
The Genome Aggregation DatabaseAmericanSub838C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1620C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18472C=0.970T=0.029
The Genome Aggregation DatabaseGlobalStudy-wide29956C=0.933T=0.066
The Genome Aggregation DatabaseOtherSub300C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.915T=0.085
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.964T=0.036
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
rs72385526.87E-05alcohol dependence21314694

eQTL of rs7238552 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 rs7238552 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 )
chr184701163947011714E067-25685
chr184701186047011995E067-25404
chr184701163947011714E069-25685
chr184701186047011995E069-25404
chr184701734847017412E070-19987
chr184704526047045326E0707861
chr184704537847045428E0707979
chr184704550047046011E0708101
chr184704614047046213E0708741
chr184704762047048008E07010221
chr184704816747048323E07010768
chr184701163947011714E081-25685
chr184701186047011995E081-25404
chr184704550047046011E0818101
chr184700590447006107E082-31292
chr184700612147006386E082-31013
chr184701677147016846E082-20553
chr184701688847017130E082-20269
chr184701734847017412E082-19987
chr184704550047046011E0828101
chr184704614047046213E0828741
chr184704627947046358E0828880





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr184701206647014821E067-22578
chr184701752747019866E067-17533
chr184701206647014821E068-22578
chr184701752747019866E068-17533
chr184701206647014821E069-22578
chr184701752747019866E069-17533
chr184701206647014821E070-22578
chr184701752747019866E070-17533
chr184701206647014821E071-22578
chr184701752747019866E071-17533
chr184701206647014821E072-22578
chr184701752747019866E072-17533
chr184701206647014821E073-22578
chr184701752747019866E073-17533
chr184701206647014821E074-22578
chr184701752747019866E074-17533
chr184701206647014821E081-22578
chr184701752747019866E081-17533
chr184701206647014821E082-22578