rs35216166

Homo sapiens
G>A
RSBN1L : Intron Variant
APTR : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0061 (1845/29974,GnomAD)
A=0059 (1729/29118,TOPMED)
A=0046 (228/5008,1000G)
A=0079 (304/3854,ALSPAC)
A=0085 (314/3708,TWINSUK)
chr7:77698016 (GRCh38.p7) (7q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
189 Enhancers around
33 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.77698016G>A
GRCh37.p13 chr 7NC_000007.13:g.77327333G>A

Gene: RSBN1L, round spermatid basic protein 1 like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RSBN1L transcriptNM_198467.2:c.N/AIntron Variant

Gene: APTR, Alu-mediated CDKN1A/p21 transcriptional regulator (non-protein coding)(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
APTR transcript variant 1NR_038361.1:n.N/AUpstream Transcript Variant
APTR transcript variant 2NR_134251.1:n.N/AUpstream Transcript Variant
APTR transcript variant 3NR_134253.1:n.N/AUpstream Transcript Variant
APTR transcript variant 4NR_134254.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.998A=0.002
1000GenomesAmericanSub694G=0.950A=0.050
1000GenomesEast AsianSub1008G=0.938A=0.062
1000GenomesEuropeSub1006G=0.913A=0.087
1000GenomesGlobalStudy-wide5008G=0.954A=0.046
1000GenomesSouth AsianSub978G=0.960A=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.921A=0.079
The Genome Aggregation DatabaseAfricanSub8720G=0.987A=0.013
The Genome Aggregation DatabaseAmericanSub838G=0.940A=0.060
The Genome Aggregation DatabaseEast AsianSub1620G=0.951A=0.049
The Genome Aggregation DatabaseEuropeSub18496G=0.915A=0.084
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.938A=0.061
The Genome Aggregation DatabaseOtherSub300G=0.860A=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.940A=0.059
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.915A=0.085
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs352161660.000102alcohol dependence24277619

eQTL of rs35216166 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A4.8825e-91751Cerebellum
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A6.0699e-81751Frontal_Cortex_BA9
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A9.0296e-101751Hypothalamus
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A2.4967e-111751Cortex
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A1.3317e-71751Cerebellar_Hemisphere
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A9.5293e-61751Brain_Spinal_cord_cervical
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A1.2256e-91751Anterior_cingulate_cortex
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A4.0818e-81751Nucleus_accumbens_basal_ganglia
Chr7:77327333RSBN1L-AS1ENSG00000214293.4G>A1.4133e-51751Amygdala

meQTL of rs35216166 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 )
chr77731435677315008E067-12325
chr77732264177322750E067-4583
chr77732300277323566E067-3767
chr77732365677323732E067-3601
chr77732380677323874E067-3459
chr77732394477324085E067-3248
chr77733192177332111E0674588
chr77733211677332156E0674783
chr77733217377332217E0674840
chr77733229977332406E0674966
chr77733240877332643E0675075
chr77735107577351259E06723742
chr77735164977351740E06724316
chr77735183577352111E06724502
chr77735221777352267E06724884
chr77735234777352410E06725014
chr77735686377357175E06729530
chr77735727077358234E06729937
chr77731435677315008E068-12325
chr77731523177315375E068-11958
chr77732300277323566E068-3767
chr77732365677323732E068-3601
chr77732380677323874E068-3459
chr77732394477324085E068-3248
chr77732899677329058E0681663
chr77733217377332217E0684840
chr77733229977332406E0684966
chr77733240877332643E0685075
chr77735107577351259E06823742
chr77735164977351740E06824316
chr77735183577352111E06824502
chr77735686377357175E06829530
chr77735823677358499E06830903
chr77735863777358720E06831304
chr77735877377358873E06831440
chr77735898577359038E06831652
chr77735913377359195E06831800
chr77735969577359823E06832362
chr77731971277319867E069-7466
chr77731988277320083E069-7250
chr77732029177320391E069-6942
chr77732365677323732E069-3601
chr77732380677323874E069-3459
chr77732394477324085E069-3248
chr77732899677329058E0691663
chr77734023177340276E06912898
chr77735011677350533E06922783
chr77735686377357175E06929530
chr77735727077358234E06929937
chr77735823677358499E06930903
chr77735863777358720E06931304
chr77735877377358873E06931440
chr77735898577359038E06931652
chr77735913377359195E06931800
chr77735935177359664E06932018
chr77735969577359823E06932362
chr77735987377360383E06932540
chr77737565677375726E06948323
chr77737587977375985E06948546
chr77737616077376210E06948827
chr77737626677376349E06948933
chr77737658377376662E06949250
chr77732394477324085E070-3248
chr77732972477329768E0702391
chr77733011777330176E0702784
chr77733020877330275E0702875
chr77733034277330392E0703009
chr77733179477331911E0704461
chr77733192177332111E0704588
chr77733211677332156E0704783
chr77733217377332217E0704840
chr77735863777358720E07031304
chr77735877377358873E07031440
chr77735898577359038E07031652
chr77735913377359195E07031800
chr77735935177359664E07032018
chr77735969577359823E07032362
chr77735987377360383E07032540
chr77731435677315008E071-12325
chr77732300277323566E071-3767
chr77732365677323732E071-3601
chr77732380677323874E071-3459
chr77732394477324085E071-3248
chr77733217377332217E0714840
chr77733229977332406E0714966
chr77733240877332643E0715075
chr77733265477332708E0715321
chr77733755877337683E07110225
chr77733821277338269E07110879
chr77733838477338591E07111051
chr77735686377357175E07129530
chr77735727077358234E07129937
chr77735823677358499E07130903
chr77735863777358720E07131304
chr77735877377358873E07131440
chr77735969577359823E07132362
chr77735987377360383E07132540
chr77736378977363848E07136456
chr77736399377364651E07136660
chr77736828477368859E07140951
chr77737720177377277E07149868
chr77731435677315008E072-12325
chr77732264177322750E072-4583
chr77732300277323566E072-3767
chr77732365677323732E072-3601
chr77732380677323874E072-3459
chr77732394477324085E072-3248
chr77733192177332111E0724588
chr77733211677332156E0724783
chr77733217377332217E0724840
chr77733229977332406E0724966
chr77733240877332643E0725075
chr77733755877337683E07210225
chr77733960177339759E07212268
chr77735686377357175E07229530
chr77735727077358234E07229937
chr77735969577359823E07232362
chr77735987377360383E07232540
chr77737626677376349E07248933
chr77737684977376933E07249516
chr77731435677315008E073-12325
chr77731971277319867E073-7466
chr77731988277320083E073-7250
chr77732899677329058E0731663
chr77733179477331911E0734461
chr77733192177332111E0734588
chr77733211677332156E0734783
chr77733217377332217E0734840
chr77733229977332406E0734966
chr77733240877332643E0735075
chr77734798977348360E07320656
chr77734838077348468E07321047
chr77735183577352111E07324502
chr77735686377357175E07329530
chr77735727077358234E07329937
chr77735823677358499E07330903
chr77735863777358720E07331304
chr77735877377358873E07331440
chr77731435677315008E074-12325
chr77731971277319867E074-7466
chr77731988277320083E074-7250
chr77733179477331911E0744461
chr77733192177332111E0744588
chr77733211677332156E0744783
chr77733217377332217E0744840
chr77733229977332406E0744966
chr77733240877332643E0745075
chr77733265477332708E0745321
chr77733319077333254E0745857
chr77733331377333363E0745980
chr77734838077348468E07421047
chr77735011677350533E07422783
chr77735686377357175E07429530
chr77735727077358234E07429937
chr77735823677358499E07430903
chr77737658377376662E07449250
chr77737684977376933E07449516
chr77737696577377070E07449632
chr77732365677323732E081-3601
chr77732380677323874E081-3459
chr77732394477324085E081-3248
chr77732899677329058E0811663
chr77732972477329768E0812391
chr77733011777330176E0812784
chr77733020877330275E0812875
chr77733034277330392E0813009
chr77733078477330827E0813451
chr77733755877337683E08110225
chr77733821277338269E08110879
chr77733838477338591E08111051
chr77735686377357175E08129530
chr77735727077358234E08129937
chr77735823677358499E08130903
chr77735863777358720E08131304
chr77735877377358873E08131440
chr77735969577359823E08132362
chr77735987377360383E08132540
chr77732264177322750E082-4583
chr77732300277323566E082-3767
chr77733011777330176E0822784
chr77735664577356710E08229312
chr77735823677358499E08230903
chr77735863777358720E08231304
chr77735877377358873E08231440
chr77735898577359038E08231652
chr77735913377359195E08231800
chr77735935177359664E08232018
chr77735969577359823E08232362
chr77735987377360383E08232540










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr77732473477324823E067-2510
chr77732487077324924E067-2409
chr77732493677327934E0670
chr77732473477324823E068-2510
chr77732487077324924E068-2409
chr77732493677327934E0680
chr77732473477324823E069-2510
chr77732487077324924E069-2409
chr77732493677327934E0690
chr77732473477324823E070-2510
chr77732487077324924E070-2409
chr77732493677327934E0700
chr77732473477324823E071-2510
chr77732487077324924E071-2409
chr77732493677327934E0710
chr77732464577324695E072-2638
chr77732473477324823E072-2510
chr77732487077324924E072-2409
chr77732493677327934E0720
chr77732473477324823E073-2510
chr77732487077324924E073-2409
chr77732493677327934E0730
chr77732473477324823E074-2510
chr77732487077324924E074-2409
chr77732493677327934E0740
chr77732473477324823E081-2510
chr77732487077324924E081-2409
chr77732493677327934E0810
chr77732416977324408E082-2925
chr77732464577324695E082-2638
chr77732473477324823E082-2510
chr77732487077324924E082-2409
chr77732493677327934E0820