rs8516

Homo sapiens
T>C
TMEM43 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0162 (4883/29970,GnomAD)
C=0155 (4520/29118,TOPMED)
C=0105 (525/5008,1000G)
C=0213 (820/3854,ALSPAC)
C=0213 (791/3708,TWINSUK)
chr3:14143169 (GRCh38.p7) (3p25.1)
AD
GWASdb2
2   publication(s)
See rs on genome
109 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.14143169T>C
GRCh37.p13 chr 3NC_000003.11:g.14184669T>C
XPC RefSeqGene LRG_472
TMEM43 RefSeqGene LRG_435

Gene: TMEM43, transmembrane protein 43(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM43 transcriptNM_024334.2:c.N/A3 Prime UTR Variant
TMEM43 transcript variant X1XM_017007176.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.911C=0.089
1000GenomesAmericanSub694T=0.860C=0.140
1000GenomesEast AsianSub1008T=0.998C=0.002
1000GenomesEuropeSub1006T=0.775C=0.225
1000GenomesGlobalStudy-wide5008T=0.895C=0.105
1000GenomesSouth AsianSub978T=0.910C=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.787C=0.213
The Genome Aggregation DatabaseAfricanSub8726T=0.911C=0.089
The Genome Aggregation DatabaseAmericanSub838T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1620T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18484T=0.787C=0.212
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.837C=0.162
The Genome Aggregation DatabaseOtherSub302T=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.844C=0.155
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.787C=0.213
PMID Title Author Journal
19902366Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study.Agalliu ICancer Causes Control
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
rs85160.000208alcohol dependence21314694

eQTL of rs8516 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:14184669VN1R20PENSG00000233121.1T>C1.9978e-7216359Frontal_Cortex_BA9

meQTL of rs8516 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 )
chr31416851214168660E067-16009
chr31416875314168803E067-15866
chr31416891314168997E067-15672
chr31416908014169283E067-15386
chr31416945514169675E067-14994
chr31418344914186672E0670
chr31418668314186766E0672014
chr31418684414187059E0672175
chr31418717714187240E0672508
chr31418728314187358E0672614
chr31418737814187587E0672709
chr31418762714187781E0672958
chr31418780714187861E0673138
chr31418792614188021E0673257
chr31418804114188353E0673372
chr31418844414188597E0673775
chr31418876114188877E0674092
chr31418897314189042E0674304
chr31418929814189576E0674629
chr31418981414189910E0675145
chr31416851214168660E068-16009
chr31416875314168803E068-15866
chr31416891314168997E068-15672
chr31416908014169283E068-15386
chr31416945514169675E068-14994
chr31417995314180019E068-4650
chr31418002414180076E068-4593
chr31418020714180257E068-4412
chr31418313614183240E068-1429
chr31418344914186672E0680
chr31418668314186766E0682014
chr31418684414187059E0682175
chr31418717714187240E0682508
chr31418728314187358E0682614
chr31418737814187587E0682709
chr31421614014216324E06831471
chr31421667814216764E06832009
chr31421682414216909E06832155
chr31421693814217089E06832269
chr31421715714217477E06832488
chr31416851214168660E069-16009
chr31416875314168803E069-15866
chr31416891314168997E069-15672
chr31416908014169283E069-15386
chr31418344914186672E0690
chr31418668314186766E0692014
chr31418684414187059E0692175
chr31418717714187240E0692508
chr31418728314187358E0692614
chr31418737814187587E0692709
chr31416851214168660E070-16009
chr31416875314168803E070-15866
chr31416891314168997E070-15672
chr31416908014169283E070-15386
chr31418929814189576E0704629
chr31418981414189910E0705145
chr31416851214168660E071-16009
chr31418344914186672E0710
chr31418668314186766E0712014
chr31418684414187059E0712175
chr31418717714187240E0712508
chr31418728314187358E0712614
chr31418737814187587E0712709
chr31421614014216324E07131471
chr31416851214168660E072-16009
chr31418221214182278E072-2391
chr31418261614182721E072-1948
chr31418283014182924E072-1745
chr31418313614183240E072-1429
chr31418344914186672E0720
chr31418668314186766E0722014
chr31418684414187059E0722175
chr31418717714187240E0722508
chr31418728314187358E0722614
chr31418737814187587E0722709
chr31418762714187781E0722958
chr31418780714187861E0723138
chr31418792614188021E0723257
chr31418929814189576E0724629
chr31418981414189910E0725145
chr31416875314168803E073-15866
chr31416891314168997E073-15672
chr31416908014169283E073-15386
chr31418261614182721E073-1948
chr31418283014182924E073-1745
chr31418313614183240E073-1429
chr31418668314186766E0732014
chr31418684414187059E0732175
chr31418717714187240E0732508
chr31418728314187358E0732614
chr31418737814187587E0732709
chr31418762714187781E0732958
chr31418780714187861E0733138
chr31418792614188021E0733257
chr31418804114188353E0733372
chr31418344914186672E0740
chr31418668314186766E0742014
chr31418684414187059E0742175
chr31421682414216909E07432155
chr31416851214168660E081-16009
chr31416875314168803E081-15866
chr31416891314168997E081-15672
chr31416908014169283E081-15386
chr31416384714164230E082-20439
chr31416428814164342E082-20327
chr31416851214168660E082-16009
chr31416875314168803E082-15866
chr31416891314168997E082-15672
chr31421788114217942E08233212










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr31416549414167777E067-16892
chr31421923614220931E06734567
chr31416549414167777E068-16892
chr31421923614220931E06834567
chr31416549414167777E069-16892
chr31421923614220931E06934567
chr31416549414167777E070-16892
chr31421923614220931E07034567
chr31416549414167777E071-16892
chr31421923614220931E07134567
chr31416549414167777E072-16892
chr31421923614220931E07234567
chr31416549414167777E073-16892
chr31421923614220931E07334567
chr31416549414167777E074-16892
chr31421923614220931E07434567
chr31416549414167777E081-16892
chr31421923614220931E08134567
chr31416549414167777E082-16892
chr31421923614220931E08234567