rs2287386

Homo sapiens
C>A
TMEM63C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0402 (11983/29742,GnomAD)
C==0360 (10487/29118,TOPMED)
C==0270 (1350/5008,1000G)
C==0396 (1525/3854,ALSPAC)
C==0412 (1529/3708,TWINSUK)
chr14:77252278 (GRCh38.p7) (14q24.3)
ND
GWASdb2
1   publication(s)
See rs on genome
167 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.77252278C>A
GRCh37.p13 chr 14NC_000014.8:g.77718621C>A

Gene: TMEM63C, transmembrane protein 63C(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM63C transcriptNM_020431.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.328A=0.672
1000GenomesAmericanSub694C=0.180A=0.820
1000GenomesEast AsianSub1008C=0.197A=0.803
1000GenomesEuropeSub1006C=0.380A=0.620
1000GenomesGlobalStudy-wide5008C=0.270A=0.730
1000GenomesSouth AsianSub978C=0.210A=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.396A=0.604
The Genome Aggregation DatabaseAfricanSub8672C=0.370A=0.630
The Genome Aggregation DatabaseAmericanSub834C=0.190A=0.810
The Genome Aggregation DatabaseEast AsianSub1606C=0.196A=0.804
The Genome Aggregation DatabaseEuropeSub18328C=0.447A=0.552
The Genome Aggregation DatabaseGlobalStudy-wide29742C=0.402A=0.597
The Genome Aggregation DatabaseOtherSub302C=0.310A=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.360A=0.639
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.412A=0.588
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs22873861.23E-05alcohol and nictotine co-dependence20158304

eQTL of rs2287386 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 rs2287386 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 )
chr147767012277670269E067-48352
chr147767027377670713E067-47908
chr147767954777679605E067-39016
chr147767970677680108E067-38513
chr147768679677687181E067-31440
chr147776806477768130E06749443
chr147766978977670014E068-48607
chr147767012277670269E068-48352
chr147767027377670713E068-47908
chr147767333777673473E068-45148
chr147767454477674697E068-43924
chr147767472577674805E068-43816
chr147767481277674868E068-43753
chr147767911077679208E068-39413
chr147767930977679349E068-39272
chr147767954777679605E068-39016
chr147768601077686256E068-32365
chr147768626477686377E068-32244
chr147768679677687181E068-31440
chr147770471477704831E068-13790
chr147770485377704965E068-13656
chr147770504477705094E068-13527
chr147770542077705549E068-13072
chr147772671977726813E0688098
chr147772687977726971E0688258
chr147772706777727143E0688446
chr147772716477727314E0688543
chr147774248277742532E06823861
chr147774255877742612E06823937
chr147776250177762937E06843880
chr147766978977670014E069-48607
chr147767012277670269E069-48352
chr147767027377670713E069-47908
chr147767088077671028E069-47593
chr147768601077686256E069-32365
chr147768626477686377E069-32244
chr147772687977726971E0698258
chr147774135777742324E06922736
chr147776725577767977E06948634
chr147767012277670269E070-48352
chr147767027377670713E070-47908
chr147767088077671028E070-47593
chr147767911077679208E070-39413
chr147767930977679349E070-39272
chr147767954777679605E070-39016
chr147767970677680108E070-38513
chr147768043777680535E070-38086
chr147768285177682901E070-35720
chr147776806477768130E07049443
chr147766978977670014E071-48607
chr147767012277670269E071-48352
chr147767027377670713E071-47908
chr147768679677687181E071-31440
chr147772706777727143E0718446
chr147772716477727314E0718543
chr147773144277731571E07112821
chr147773160977731685E07112988
chr147773175377731845E07113132
chr147773188077732013E07113259
chr147773204877732269E07113427
chr147767012277670269E072-48352
chr147767027377670713E072-47908
chr147768601077686256E072-32365
chr147768626477686377E072-32244
chr147768679677687181E072-31440
chr147772687977726971E0728258
chr147772706777727143E0728446
chr147772716477727314E0728543
chr147773175377731845E07213132
chr147773188077732013E07213259
chr147766978977670014E073-48607
chr147767012277670269E073-48352
chr147767027377670713E073-47908
chr147767491477675409E073-43212
chr147767820377678260E073-40361
chr147767827377678356E073-40265
chr147767885777679099E073-39522
chr147767911077679208E073-39413
chr147767930977679349E073-39272
chr147768601077686256E073-32365
chr147768626477686377E073-32244
chr147773058677731199E07311965
chr147773144277731571E07312821
chr147773160977731685E07312988
chr147773175377731845E07313132
chr147774119177741252E07322570
chr147774135777742324E07322736
chr147774248277742532E07323861
chr147774255877742612E07323937
chr147774267677742740E07324055
chr147776725577767977E07348634
chr147767454477674697E074-43924
chr147767472577674805E074-43816
chr147768679677687181E074-31440
chr147772671977726813E0748098
chr147772687977726971E0748258
chr147772706777727143E0748446
chr147772716477727314E0748543
chr147774248277742532E07423861
chr147774255877742612E07423937
chr147776250177762937E07443880
chr147776339777763451E07444776
chr147766888477668996E081-49625
chr147766904977669150E081-49471
chr147766933277669388E081-49233
chr147766978977670014E081-48607
chr147767012277670269E081-48352
chr147767027377670713E081-47908
chr147767088077671028E081-47593
chr147767545977675509E081-43112
chr147767800577678117E081-40504
chr147767814777678197E081-40424
chr147767820377678260E081-40361
chr147767827377678356E081-40265
chr147767885777679099E081-39522
chr147767911077679208E081-39413
chr147767930977679349E081-39272
chr147767954777679605E081-39016
chr147767970677680108E081-38513
chr147768043777680535E081-38086
chr147768178277681832E081-36789
chr147768202577682374E081-36247
chr147768248277682533E081-36088
chr147768272877682795E081-35826
chr147768285177682901E081-35720
chr147772981877729858E08111197
chr147773021377730285E08111592
chr147773058677731199E08111965
chr147773144277731571E08112821
chr147773160977731685E08112988
chr147773175377731845E08113132
chr147773188077732013E08113259
chr147773204877732269E08113427
chr147774135777742324E08122736
chr147774248277742532E08123861
chr147774255877742612E08123937
chr147774267677742740E08124055
chr147774833177748717E08129710
chr147774935177749403E08130730
chr147774978377749884E08131162
chr147774997577750035E08131354
chr147775053777750705E08131916
chr147775321277753605E08134591
chr147766978977670014E082-48607
chr147767012277670269E082-48352
chr147767027377670713E082-47908
chr147767088077671028E082-47593
chr147767885777679099E082-39522
chr147767911077679208E082-39413
chr147773058677731199E08211965
chr147773144277731571E08212821
chr147773160977731685E08212988
chr147773175377731845E08213132
chr147773188077732013E08213259
chr147773204877732269E08213427
chr147774135777742324E08222736
chr147774248277742532E08223861
chr147774255877742612E08223937
chr147774267677742740E08224055
chr147774935177749403E08230730
chr147774978377749884E08231162
chr147774997577750035E08231354
chr147775053777750705E08231916
chr147775086877751151E08232247
chr147775134777751397E08232726
chr147776725577767977E08248634
chr147776806477768130E08249443










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr147773703477737143E06918413
chr147773716777737294E06918546
chr147773703477737143E07218413
chr147773716777737294E07218546
chr147773639277737024E08217771
chr147773703477737143E08218413
chr147773716777737294E08218546
chr147773731077737741E08218689