Variant report

Variant	rs10816263
Chromosome Location	chr9:9953127-9953128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10491911	0.87[CHB][hapmap]
rs10759111	0.89[GIH][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap]
rs10759117	0.81[CEU][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10816234	0.81[CHB][hapmap]
rs10816239	0.87[MEX][hapmap];0.85[TSI][hapmap]
rs10816244	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs10816256	0.83[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap]
rs10816257	0.83[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap]
rs10816261	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10978092	0.87[CHB][hapmap]
rs10978093	1.00[CHB][hapmap]
rs10978095	0.87[CHB][hapmap]
rs10978096	0.81[CHB][hapmap]
rs10978098	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs10978099	0.96[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs10978100	0.87[CHB][hapmap]
rs10978119	0.87[CHB][hapmap]
rs12235769	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12683380	0.87[TSI][hapmap]
rs16930640	0.87[JPT][hapmap]
rs1986862	0.80[JPT][hapmap]
rs1986863	0.80[JPT][hapmap]
rs2382081	0.87[JPT][hapmap]
rs2382082	0.83[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs2382083	0.80[JPT][hapmap]
rs2382087	0.84[GIH][hapmap]
rs2890891	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs4336661	0.91[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs4552967	0.96[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs4636255	0.87[CHB][hapmap]
rs6477426	0.91[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]
rs7027038	0.81[CHB][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs7467612	0.81[CHB][hapmap]
rs7849423	0.85[TSI][hapmap]
rs7874452	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034731	chr9:9776126-10481262	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018814	chr9:9793285-9957301	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv892295	chr9:9832245-10380406	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1022172	chr9:9841432-9975529	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1022613	chr9:9857456-9985419	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv539986	chr9:9857456-9985419	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv466147	chr9:9859571-9962204	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv613355	chr9:9859571-9962204	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv613359	chr9:9904481-10008130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1031978	chr9:9905053-10006290	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv539987	chr9:9905053-10006290	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv870122	chr9:9905113-9955886	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv466148	chr9:9905178-9962381	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv613360	chr9:9905178-9962381	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1025234	chr9:9905178-10011184	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv613361	chr9:9910922-9962204	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv613362	chr9:9910922-9963943	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1019549	chr9:9919783-9959250	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1026679	chr9:9919783-10069385	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1032019	chr9:9919783-10070211	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv892299	chr9:9929916-9974221	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
22	nsv1016880	chr9:9941673-9996437	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
23	nsv1023110	chr9:9941673-9997877	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
24	nsv1017809	chr9:9943339-9994698	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
25	nsv539988	chr9:9943339-9994698	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
26	nsv1021380	chr9:9943339-10126281	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv539989	chr9:9943339-10126281	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv1017182	chr9:9945265-10011933	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
29	nsv613363	chr9:9945648-9968038	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv466150	chr9:9945648-9970203	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
31	nsv1018157	chr9:9945648-10014310	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
32	nsv1017405	chr9:9950856-10006290	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases
33	nsv539990	chr9:9950856-10006290	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10816263	GLDC	cis	cerebellum	SCAN
rs10816263	UHRF2	cis	cerebellum	SCAN
rs10816263	C9orf150	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9951200-9954200	Enhancers	Fetal Heart	heart

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