rs3016863

Homo sapiens
A>G
TMPRSS4-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0498 (14930/29924,GnomAD)
G=0452 (13181/29118,TOPMED)
A==0477 (2388/5008,1000G)
A==0449 (1731/3854,ALSPAC)
A==0454 (1684/3708,TWINSUK)
chr11:118037613 (GRCh38.p7) (11q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
63 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.118037613A>G
GRCh37.p13 chr 11NC_000011.9:g.117908328A>G

Gene: TMPRSS4-AS1, TMPRSS4 antisense RNA 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMPRSS4-AS1 transcriptNR_038318.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.648G=0.352
1000GenomesAmericanSub694A=0.480G=0.520
1000GenomesEast AsianSub1008A=0.332G=0.668
1000GenomesEuropeSub1006A=0.445G=0.555
1000GenomesGlobalStudy-wide5008A=0.477G=0.523
1000GenomesSouth AsianSub978A=0.430G=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.449G=0.551
The Genome Aggregation DatabaseAfricanSub8706A=0.637G=0.363
The Genome Aggregation DatabaseAmericanSub838A=0.520G=0.480
The Genome Aggregation DatabaseEast AsianSub1618A=0.371G=0.629
The Genome Aggregation DatabaseEuropeSub18460A=0.445G=0.554
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.498G=0.501
The Genome Aggregation DatabaseOtherSub302A=0.440G=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.547G=0.452
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.454G=0.546
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
rs30168630.000511alcohol dependence21314694

eQTL of rs3016863 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 rs3016863 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 )
chr11117938820117938936E06730492
chr11117939077117939239E06730749
chr11117939318117939542E06730990
chr11117928307117928357E06819979
chr11117931261117931335E06822933
chr11117931494117931562E06823166
chr11117931665117931934E06823337
chr11117932123117932309E06823795
chr11117938820117938936E06830492
chr11117939077117939239E06830749
chr11117939318117939542E06830990
chr11117939658117939788E06831330
chr11117941677117941749E06833349
chr11117941773117941992E06833445
chr11117941998117942048E06833670
chr11117942049117942099E06833721
chr11117942186117942348E06833858
chr11117942571117942664E06834243
chr11117942725117942856E06834397
chr11117953366117953453E06845038
chr11117953454117953556E06845126
chr11117953600117953664E06845272
chr11117953711117953886E06845383
chr11117953891117954157E06845563
chr11117957079117957129E06848751
chr11117957239117957334E06848911
chr11117957462117957524E06849134
chr11117957623117957900E06849295
chr11117913342117913413E0695014
chr11117913422117913864E0695094
chr11117913966117914032E0695638
chr11117916574117916637E0698246
chr11117916713117917630E0698385
chr11117883484117883536E071-24792
chr11117883575117883615E071-24713
chr11117883802117883842E071-24486
chr11117916415117916505E0718087
chr11117916574117916637E0718246
chr11117923098117923214E07114770
chr11117939658117939788E07131330
chr11117957623117957900E07149295
chr11117871496117871550E072-36778
chr11117880822117880906E072-27422
chr11117882425117883442E072-24886
chr11117916574117916637E0728246
chr11117916713117917630E0728385
chr11117930208117930281E07221880
chr11117930304117930366E07221976
chr11117939658117939788E07231330
chr11117864021117864082E074-44246
chr11117916415117916505E0748087
chr11117916574117916637E0748246
chr11117939318117939542E07430990
chr11117939658117939788E07431330
chr11117886799117886849E081-21479
chr11117886900117887169E081-21159
chr11117887183117887291E081-21037
chr11117887305117887489E081-20839
chr11117887614117887690E081-20638
chr11117887796117887847E081-20481
chr11117887958117888126E081-20202
chr11117888476117888565E081-19763
chr11117928965117929066E08120637







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11117858803117858902E068-49426
chr11117858909117859068E068-49260
chr11117859130117859518E068-48810
chr11117859798117859902E068-48426
chr11117860061117860270E068-48058
chr11117860355117860445E068-47883
chr11117860464117860729E068-47599
chr11117860826117860942E068-47386
chr11117858803117858902E069-49426
chr11117858909117859068E069-49260
chr11117858803117858902E071-49426
chr11117858909117859068E071-49260
chr11117859130117859518E071-48810
chr11117859798117859902E071-48426
chr11117860061117860270E071-48058
chr11117860355117860445E071-47883
chr11117860464117860729E071-47599
chr11117860826117860942E071-47386
chr11117859798117859902E073-48426
chr11117860061117860270E073-48058
chr11117858803117858902E074-49426
chr11117858909117859068E074-49260
chr11117859130117859518E074-48810
chr11117860061117860270E074-48058
chr11117860355117860445E074-47883