rs9321013

Homo sapiens
G>A
RNF217 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0257 (7705/29916,GnomAD)
A=0239 (6974/29118,TOPMED)
A=0266 (1332/5008,1000G)
A=0306 (1179/3854,ALSPAC)
A=0307 (1140/3708,TWINSUK)
chr6:125009775 (GRCh38.p7) (6q22.31)
ND
GWASdb2
2   publication(s)
See rs on genome
114 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.125009775G>A
GRCh37.p13 chr 6NC_000006.11:g.125330921G>A

Gene: RNF217, ring finger protein 217(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RNF217 transcript variant 1NM_001286398.2:c.N/AIntron Variant
RNF217 transcript variant 2NM_152553.4:c.N/AIntron Variant
RNF217 transcript variant 3NR_104440.2:n.N/AIntron Variant
RNF217 transcript variant 4NR_136734.1:n.N/AIntron Variant
RNF217 transcript variant X1XM_011535494.2:c.N/AIntron Variant
RNF217 transcript variant X3XM_011535496.2:c.N/AIntron Variant
RNF217 transcript variant X14XM_011535500.2:c.N/AIntron Variant
RNF217 transcript variant X2XM_011535495.2:c.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X7XM_011535499.2:c.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X9XM_017010317.1:c.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X5XR_001743178.1:n.N/AIntron Variant
RNF217 transcript variant X6XR_001743179.1:n.N/AIntron Variant
RNF217 transcript variant X11XR_001743181.1:n.N/AIntron Variant
RNF217 transcript variant X4XR_942305.2:n.N/AIntron Variant
RNF217 transcript variant X10XR_001743180.1:n.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X12XR_001743182.1:n.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X13XR_001743183.1:n.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X8XR_942309.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.921A=0.079
1000GenomesAmericanSub694G=0.700A=0.300
1000GenomesEast AsianSub1008G=0.564A=0.436
1000GenomesEuropeSub1006G=0.701A=0.299
1000GenomesGlobalStudy-wide5008G=0.734A=0.266
1000GenomesSouth AsianSub978G=0.720A=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.694A=0.306
The Genome Aggregation DatabaseAfricanSub8708G=0.879A=0.121
The Genome Aggregation DatabaseAmericanSub838G=0.690A=0.310
The Genome Aggregation DatabaseEast AsianSub1614G=0.546A=0.454
The Genome Aggregation DatabaseEuropeSub18456G=0.698A=0.301
The Genome Aggregation DatabaseGlobalStudy-wide29916G=0.742A=0.257
The Genome Aggregation DatabaseOtherSub300G=0.700A=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.760A=0.239
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.693A=0.307
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
21618602Detecting genetic interactions for quantitative traits with U-statistics.Li MGenet Epidemiol

P-Value

SNP ID p-value Traits Study
rs93210134.95E-05nicotine smoking19268276

eQTL of rs9321013 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 rs9321013 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 )
chr6125286896125287010E067-43911
chr6125289479125289541E067-41380
chr6125322967125323895E067-7026
chr6125330200125330516E067-405
chr6125343667125343767E06712746
chr6125362629125362679E06731708
chr6125362725125362872E06731804
chr6125362910125363037E06731989
chr6125363078125363636E06732157
chr6125364226125364519E06733305
chr6125367147125367933E06736226
chr6125375746125375819E06744825
chr6125376053125376133E06745132
chr6125286740125286861E068-44060
chr6125286896125287010E068-43911
chr6125291506125291647E068-39274
chr6125341128125341446E06810207
chr6125350619125350669E06819698
chr6125362629125362679E06831708
chr6125362725125362872E06831804
chr6125362910125363037E06831989
chr6125363078125363636E06832157
chr6125364226125364519E06833305
chr6125371823125372214E06840902
chr6125372856125372959E06841935
chr6125380659125380763E06849738
chr6125307421125307539E069-23382
chr6125330200125330516E069-405
chr6125330634125330758E069-163
chr6125330862125331027E0690
chr6125341128125341446E06910207
chr6125341463125341828E06910542
chr6125343667125343767E06912746
chr6125362629125362679E06931708
chr6125362725125362872E06931804
chr6125362910125363037E06931989
chr6125363078125363636E06932157
chr6125364226125364519E06933305
chr6125375746125375819E06944825
chr6125376053125376133E06945132
chr6125322967125323895E070-7026
chr6125339407125339545E0708486
chr6125340093125340208E0709172
chr6125341128125341446E07010207
chr6125341463125341828E07010542
chr6125286896125287010E071-43911
chr6125307421125307539E071-23382
chr6125320349125320542E071-10379
chr6125320607125320755E071-10166
chr6125323924125324327E071-6594
chr6125324375125324498E071-6423
chr6125330634125330758E071-163
chr6125330862125331027E0710
chr6125340093125340208E0719172
chr6125341128125341446E07110207
chr6125341463125341828E07110542
chr6125362629125362679E07131708
chr6125362725125362872E07131804
chr6125362910125363037E07131989
chr6125363078125363636E07132157
chr6125364226125364519E07133305
chr6125375746125375819E07144825
chr6125376053125376133E07145132
chr6125291506125291647E072-39274
chr6125320247125320317E072-10604
chr6125320349125320542E072-10379
chr6125323924125324327E072-6594
chr6125324375125324498E072-6423
chr6125330200125330516E072-405
chr6125330634125330758E072-163
chr6125330862125331027E0720
chr6125341128125341446E07210207
chr6125341463125341828E07210542
chr6125343667125343767E07212746
chr6125343991125344041E07213070
chr6125362629125362679E07231708
chr6125362725125362872E07231804
chr6125362910125363037E07231989
chr6125363078125363636E07232157
chr6125364226125364519E07233305
chr6125367147125367933E07236226
chr6125371823125372214E07240902
chr6125375746125375819E07244825
chr6125376053125376133E07245132
chr6125288764125288888E073-42033
chr6125330200125330516E073-405
chr6125330634125330758E073-163
chr6125330862125331027E0730
chr6125341128125341446E07310207
chr6125341463125341828E07310542
chr6125362629125362679E07331708
chr6125362725125362872E07331804
chr6125363078125363636E07332157
chr6125364226125364519E07333305
chr6125375746125375819E07344825
chr6125286740125286861E074-44060
chr6125286896125287010E074-43911
chr6125300854125300904E074-30017
chr6125325373125325674E074-5247
chr6125330862125331027E0740
chr6125341128125341446E07410207
chr6125341463125341828E07410542
chr6125343667125343767E07412746
chr6125343991125344041E07413070
chr6125350619125350669E07419698
chr6125362910125363037E07431989
chr6125363078125363636E07432157
chr6125364226125364519E07433305
chr6125371823125372214E07440902
chr6125375746125375819E07444825
chr6125376053125376133E07445132
chr6125378822125378952E07447901
chr6125286740125286861E082-44060
chr6125286896125287010E082-43911









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6125282371125286367E067-44554
chr6125282371125286367E068-44554
chr6125282371125286367E069-44554
chr6125282371125286367E070-44554
chr6125282371125286367E071-44554
chr6125282371125286367E072-44554
chr6125282371125286367E073-44554
chr6125282371125286367E074-44554
chr6125282371125286367E081-44554
chr6125282371125286367E082-44554