Variant report

Variant	rs2131919
Chromosome Location	chr9:95283887-95283888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10491806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10761156	1.00[YRI][hapmap]
rs10820997	0.84[MEX][hapmap]
rs10820998	1.00[ASW][hapmap];0.91[CEU][hapmap];0.88[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs10821001	0.84[AMR][1000 genomes]
rs10821003	0.84[AMR][1000 genomes]
rs10821004	0.84[AMR][1000 genomes]
rs10821005	0.84[AMR][1000 genomes]
rs10821011	0.83[AMR][1000 genomes]
rs10821014	0.84[AMR][1000 genomes]
rs10992367	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992380	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10992382	0.83[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap]
rs10992384	0.91[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10992390	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[AMR][1000 genomes]
rs10992392	0.91[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes]
rs10992396	0.85[AMR][1000 genomes]
rs10992406	0.88[CHB][hapmap]
rs10992407	0.82[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs10992408	0.88[CHB][hapmap];0.80[AMR][1000 genomes]
rs10992409	0.80[AMR][1000 genomes]
rs10992412	0.85[AMR][1000 genomes]
rs10992414	0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs10992416	0.84[AMR][1000 genomes]
rs10992417	0.84[AMR][1000 genomes]
rs10992420	0.84[AMR][1000 genomes]
rs10992422	0.84[AMR][1000 genomes]
rs10992423	0.84[AMR][1000 genomes]
rs10992437	0.84[AMR][1000 genomes]
rs1117670	0.83[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap]
rs1152759	1.00[YRI][hapmap]
rs11533010	0.84[AMR][1000 genomes]
rs1175788	1.00[YRI][hapmap]
rs12236013	0.90[AMR][1000 genomes]
rs12238691	0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs12685358	0.84[AMR][1000 genomes]
rs12686771	0.86[TSI][hapmap]
rs12686780	0.86[AMR][1000 genomes]
rs12686781	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1323523	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs1326775	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1552908	0.80[JPT][hapmap];0.84[MEX][hapmap]
rs1575460	0.91[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17366488	0.90[AMR][1000 genomes]
rs1853468	0.91[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1980705	0.84[MEX][hapmap]
rs2025389	1.00[YRI][hapmap]
rs2031262	1.00[YRI][hapmap]
rs2038685	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2088054	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2146848	0.91[CEU][hapmap]
rs2148537	0.91[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2172716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2181584	0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs2281888	0.84[MEX][hapmap]
rs230222	1.00[YRI][hapmap]
rs3203916	0.84[MEX][hapmap]
rs331380	1.00[YRI][hapmap]
rs3739605	0.82[CHB][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes]
rs556	0.83[MEX][hapmap]
rs58952648	0.84[AMR][1000 genomes]
rs60498616	0.84[AMR][1000 genomes]
rs6479426	0.83[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap]
rs67601697	0.87[AMR][1000 genomes]
rs753804	0.84[AMR][1000 genomes]
rs754600	0.88[AMR][1000 genomes]
rs7853617	0.84[AMR][1000 genomes]
rs7856147	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs7857105	0.91[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes]
rs7857502	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs7863882	0.83[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap]
rs7863890	0.84[MEX][hapmap]
rs7869603	0.84[AMR][1000 genomes]
rs7875050	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[AMR][1000 genomes]
rs879812	0.84[MEX][hapmap]
rs912261	0.88[CHB][hapmap];1.00[MEX][hapmap]
rs912264	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs971984	1.00[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1822933	chr9:95255176-95293308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2131919	FBP1	cis	cerebellum	SCAN
rs2131919	ANKRD19	cis	cerebellum	SCAN
rs2131919	ASPN	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95269800-95298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:95270800-95284800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:95271200-95284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:95271600-95285600	Weak transcription	Left Ventricle	heart
5	chr9:95275800-95285800	Weak transcription	Fetal Intestine Small	intestine
6	chr9:95276000-95296600	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:95276800-95284000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:95279600-95290400	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:95280200-95284800	Weak transcription	Pancreas	Pancrea
10	chr9:95280800-95290400	Weak transcription	Aorta	Aorta
11	chr9:95280800-95296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:95281400-95295800	Weak transcription	Liver	Liver
13	chr9:95281800-95290400	Weak transcription	Adipose Nuclei	Adipose
14	chr9:95282000-95285400	Weak transcription	Ovary	ovary
15	chr9:95283400-95286400	Weak transcription	Fetal Lung	lung
16	chr9:95283600-95286600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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