rs511395

Homo sapiens
C>T
NAA35 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0016 (487/29982,GnomAD)
T=0011 (339/29118,TOPMED)
T=0007 (34/5008,1000G)
T=0019 (75/3854,ALSPAC)
T=0020 (74/3708,TWINSUK)
chr9:85947477 (GRCh38.p7) (9q21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
81 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.85947477C>T
GRCh37.p13 chr 9NC_000009.11:g.88562392C>T

Gene: NAA35, N(alpha)-acetyltransferase 35, NatC auxiliary subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NAA35 transcript variant 2NM_001321881.1:c.N/AIntron Variant
NAA35 transcript variant 3NM_001321882.1:c.N/AIntron Variant
NAA35 transcript variant 1NM_024635.3:c.N/AIntron Variant
NAA35 transcript variant X1XM_005252127.3:c.N/AIntron Variant
NAA35 transcript variant X2XM_017015012.1:c.N/AIntron Variant
NAA35 transcript variant X3XM_011518903.2:c.N/AGenic Upstream Transcript Variant
NAA35 transcript variant X4XM_011518904.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.999T=0.001
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.975T=0.025
1000GenomesGlobalStudy-wide5008C=0.993T=0.007
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.981T=0.019
The Genome Aggregation DatabaseAfricanSub8724C=0.996T=0.004
The Genome Aggregation DatabaseAmericanSub838C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18498C=0.976T=0.023
The Genome Aggregation DatabaseGlobalStudy-wide29982C=0.983T=0.016
The Genome Aggregation DatabaseOtherSub302C=0.990T=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.988T=0.011
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.980T=0.020
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs5113953.72E-06alcohol consumption23953852

eQTL of rs511395 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 rs511395 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 )
chr98855743088557484E067-4908
chr98855760088557688E067-4704
chr98855774188557804E067-4588
chr98855808688558158E067-4234
chr98855829588558548E067-3844
chr98855880088558840E067-3552
chr98856275888562821E067366
chr98856290988562985E067517
chr98857547488575537E06713082
chr98857559988576002E06713207
chr98855743088557484E068-4908
chr98855760088557688E068-4704
chr98855774188557804E068-4588
chr98855808688558158E068-4234
chr98855829588558548E068-3844
chr98855880088558840E068-3552
chr98855930588559433E068-2959
chr98855945688559540E068-2852
chr98857559988576002E06813207
chr98852419688524928E069-37464
chr98855743088557484E069-4908
chr98855760088557688E069-4704
chr98855774188557804E069-4588
chr98857547488575537E06913082
chr98857559988576002E06913207
chr98858412088584171E06921728
chr98855743088557484E070-4908
chr98855760088557688E070-4704
chr98855774188557804E070-4588
chr98855808688558158E070-4234
chr98855829588558548E070-3844
chr98855880088558840E070-3552
chr98855930588559433E070-2959
chr98855945688559540E070-2852
chr98857510288575236E07012710
chr98857547488575537E07013082
chr98857559988576002E07013207
chr98859662288596706E07034230
chr98859676688597209E07034374
chr98855504388555124E071-7268
chr98855743088557484E071-4908
chr98855760088557688E071-4704
chr98855774188557804E071-4588
chr98855808688558158E071-4234
chr98855829588558548E071-3844
chr98857510288575236E07112710
chr98857547488575537E07113082
chr98857559988576002E07113207
chr98858412088584171E07121728
chr98859352088593735E07131128
chr98855760088557688E072-4704
chr98855774188557804E072-4588
chr98855808688558158E072-4234
chr98857559988576002E07213207
chr98857914788579220E07216755
chr98858412088584171E07221728
chr98855743088557484E073-4908
chr98855760088557688E073-4704
chr98855774188557804E073-4588
chr98855808688558158E073-4234
chr98855829588558548E073-3844
chr98855930588559433E074-2959
chr98855945688559540E074-2852
chr98856275888562821E074366
chr98856290988562985E074517
chr98857547488575537E07413082
chr98857559988576002E07413207
chr98858277188582959E07420379
chr98858307688583126E07420684
chr98858312888583178E07420736
chr98859318588593242E07430793
chr98852046588520534E081-41858
chr98855743088557484E081-4908
chr98855760088557688E081-4704
chr98855774188557804E081-4588
chr98855808688558158E081-4234
chr98855829588558548E081-3844
chr98855808688558158E082-4234
chr98855829588558548E082-3844
chr98857547488575537E08213082
chr98857559988576002E08213207










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr98855512988557283E067-5109
chr98855512988557283E068-5109
chr98855512988557283E069-5109
chr98855512988557283E070-5109
chr98855512988557283E071-5109
chr98855512988557283E072-5109
chr98855512988557283E073-5109
chr98855512988557283E074-5109
chr98855512988557283E081-5109
chr98855512988557283E082-5109