rs11060883

Homo sapiens
A>G
RIMBP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0244 (7323/29908,GnomAD)
G=0321 (9347/29118,TOPMED)
G=0324 (1625/5008,1000G)
G=0088 (340/3854,ALSPAC)
G=0093 (345/3708,TWINSUK)
chr12:130419855 (GRCh38.p7) (12q24.33)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.130419855A>G
GRCh37.p13 chr 12NC_000012.11:g.130904400A>G

Gene: RIMBP2, RIMS binding protein 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RIMBP2 transcriptNM_015347.4:c.N/AIntron Variant
RIMBP2 transcript variant X1XM_011538102.1:c.N/AIntron Variant
RIMBP2 transcript variant X2XM_011538103.2:c.N/AIntron Variant
RIMBP2 transcript variant X3XM_011538104.2:c.N/AIntron Variant
RIMBP2 transcript variant X5XM_011538105.2:c.N/AIntron Variant
RIMBP2 transcript variant X6XM_011538106.2:c.N/AIntron Variant
RIMBP2 transcript variant X4XM_017019105.1:c.N/AIntron Variant
RIMBP2 transcript variant X7XM_017019106.1:c.N/AIntron Variant
RIMBP2 transcript variant X8XM_017019107.1:c.N/AIntron Variant
RIMBP2 transcript variant X9XM_017019108.1:c.N/AIntron Variant
RIMBP2 transcript variant X10XM_017019109.1:c.N/AIntron Variant
RIMBP2 transcript variant X11XM_017019110.1:c.N/AIntron Variant
RIMBP2 transcript variant X12XM_017019111.1:c.N/AIntron Variant
RIMBP2 transcript variant X13XM_011538107.2:c.N/AGenic Downstream Transcript Variant
RIMBP2 transcript variant X14XM_011538108.2:c.N/AGenic Downstream Transcript Variant
RIMBP2 transcript variant X15XM_017019112.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.378G=0.622
1000GenomesAmericanSub694A=0.670G=0.330
1000GenomesEast AsianSub1008A=0.598G=0.402
1000GenomesEuropeSub1006A=0.911G=0.089
1000GenomesGlobalStudy-wide5008A=0.676G=0.324
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.912G=0.088
The Genome Aggregation DatabaseAfricanSub8696A=0.449G=0.551
The Genome Aggregation DatabaseAmericanSub834A=0.660G=0.340
The Genome Aggregation DatabaseEast AsianSub1612A=0.635G=0.365
The Genome Aggregation DatabaseEuropeSub18464A=0.911G=0.088
The Genome Aggregation DatabaseGlobalStudy-wide29908A=0.755G=0.244
The Genome Aggregation DatabaseOtherSub302A=0.900G=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.679G=0.321
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.907G=0.093
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs110608830.000803nicotine smoking19268276

eQTL of rs11060883 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 rs11060883 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 )
chr12130882734130882939E067-21461
chr12130882001130882055E068-22345
chr12130880990130881180E069-23220
chr12130881647130881800E069-22600
chr12130882001130882055E069-22345
chr12130883011130883365E069-21035
chr12130906420130906521E0692020
chr12130941767130941817E06937367
chr12130941936130941987E06937536
chr12130941990130942098E06937590
chr12130860341130860412E070-43988
chr12130881647130881800E070-22600
chr12130882001130882055E070-22345
chr12130940981130941031E07036581
chr12130941199130941704E07036799
chr12130941767130941817E07037367
chr12130941936130941987E07037536
chr12130941990130942098E07037590
chr12130942476130942875E07038076
chr12130943084130943124E07038684
chr12130947116130947166E07042716
chr12130947213130947269E07042813
chr12130947281130947391E07042881
chr12130948584130948801E07044184
chr12130949325130949382E07044925
chr12130949877130949947E07045477
chr12130880990130881180E071-23220
chr12130882001130882055E071-22345
chr12130882734130882939E071-21461
chr12130941990130942098E07137590
chr12130880990130881180E072-23220
chr12130882001130882055E072-22345
chr12130913201130913307E0728801
chr12130913676130914177E0729276
chr12130947213130947269E07242813
chr12130947281130947391E07242881
chr12130941936130941987E07337536
chr12130947116130947166E07342716
chr12130947213130947269E07342813
chr12130947281130947391E07342881
chr12130948584130948801E07344184
chr12130880990130881180E074-23220
chr12130855362130855422E081-48978
chr12130855513130855624E081-48776
chr12130875677130875733E081-28667
chr12130912812130912958E0818412
chr12130913015130913079E0818615
chr12130913201130913307E0818801
chr12130913676130914177E0819276
chr12130914218130914286E0819818
chr12130914470130914745E08110070
chr12130914840130914920E08110440
chr12130939484130939619E08135084
chr12130939716130939756E08135316
chr12130939903130939953E08135503
chr12130940657130940778E08136257
chr12130940981130941031E08136581
chr12130941199130941704E08136799
chr12130941767130941817E08137367
chr12130941936130941987E08137536
chr12130941990130942098E08137590
chr12130942476130942875E08138076
chr12130943084130943124E08138684
chr12130943718130943807E08139318
chr12130944591130944726E08140191
chr12130945002130945046E08140602
chr12130945515130945572E08141115
chr12130945594130945710E08141194
chr12130945996130946046E08141596
chr12130946170130946242E08141770
chr12130946552130946636E08142152
chr12130946813130946929E08142413
chr12130947116130947166E08142716
chr12130947213130947269E08142813
chr12130947281130947391E08142881
chr12130948584130948801E08144184
chr12130949325130949382E08144925
chr12130949877130949947E08145477
chr12130950298130950338E08145898
chr12130854446130854775E082-49625
chr12130855362130855422E082-48978
chr12130855513130855624E082-48776
chr12130913676130914177E0829276
chr12130914218130914286E0829818
chr12130914470130914745E08210070
chr12130914840130914920E08210440
chr12130941199130941704E08236799
chr12130941767130941817E08237367
chr12130941936130941987E08237536
chr12130941990130942098E08237590
chr12130942476130942875E08238076
chr12130946813130946929E08242413
chr12130947116130947166E08242716
chr12130947213130947269E08242813
chr12130947281130947391E08242881
chr12130948584130948801E08244184