rs2526100

Homo sapiens
T>C
THSD7A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0148 (4457/29956,GnomAD)
C=0146 (4261/29118,TOPMED)
C=0131 (654/5008,1000G)
C=0175 (676/3854,ALSPAC)
C=0160 (593/3708,TWINSUK)
chr7:11638151 (GRCh38.p7) (7p21.3)
AD
GWASdb2
2   publication(s)
See rs on genome
17 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.11638151T>C
GRCh37.p13 chr 7NC_000007.13:g.11677778T>C
THSD7A RefSeqGeneNG_027670.1:g.199047A>G

Gene: THSD7A, thrombospondin type 1 domain containing 7A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
THSD7A transcriptNM_015204.2:c.N/AIntron Variant
THSD7A transcript variant X1XM_006715659.1:c.N/AIntron Variant
THSD7A transcript variant X4XM_006715660.1:c.N/AIntron Variant
THSD7A transcript variant X6XM_006715662.1:c.N/AIntron Variant
THSD7A transcript variant X2XM_011515193.2:c.N/AIntron Variant
THSD7A transcript variant X3XM_011515194.1:c.N/AIntron Variant
THSD7A transcript variant X5XR_001744589.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.902C=0.098
1000GenomesAmericanSub694T=0.780C=0.220
1000GenomesEast AsianSub1008T=0.842C=0.158
1000GenomesEuropeSub1006T=0.833C=0.167
1000GenomesGlobalStudy-wide5008T=0.869C=0.131
1000GenomesSouth AsianSub978T=0.950C=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.825C=0.175
The Genome Aggregation DatabaseAfricanSub8720T=0.880C=0.120
The Genome Aggregation DatabaseAmericanSub836T=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1618T=0.833C=0.167
The Genome Aggregation DatabaseEuropeSub18480T=0.841C=0.158
The Genome Aggregation DatabaseGlobalStudy-wide29956T=0.851C=0.148
The Genome Aggregation DatabaseOtherSub302T=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.853C=0.146
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.840C=0.160
PMID Title Author Journal
20122189Identifying main effects and epistatic interactions from large-scale SNP data via adaptive group Lasso.Yang CBMC Bioinformatics
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
rs25261000.000407alcohol dependence21314694

eQTL of rs2526100 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 rs2526100 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 )
chr71164425411644358E067-33420
chr71164504811645750E067-32028
chr71170447611704681E07026698
chr71170495211705343E07027174
chr71170543411705494E07027656
chr71166541711665617E071-12161
chr71166564511665733E071-12045
chr71164685011646900E072-30878
chr71164690111647041E072-30737
chr71164467311644757E074-33021
chr71164583311645883E074-31895
chr71164733711647807E074-29971
chr71169825611698316E08120478
chr71170421311704457E08126435
chr71164733711647807E082-29971
chr71168175311682439E0823975
chr71168256311682882E0824785