Variant report

Variant	rs17071619
Chromosome Location	chr8:4685954-4685955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10081504	0.90[TSI][hapmap]
rs10503282	0.90[TSI][hapmap]
rs11775007	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11778154	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11778566	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11780377	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11781735	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11782229	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11784939	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11786617	0.90[TSI][hapmap]
rs12675806	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs12675866	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs12679612	0.90[TSI][hapmap]
rs12682116	0.90[TSI][hapmap]
rs1457184	0.90[TSI][hapmap]
rs17071305	0.90[TSI][hapmap]
rs17071320	0.81[TSI][hapmap]
rs4369008	0.90[TSI][hapmap]
rs4372021	0.90[TSI][hapmap]
rs4875383	0.90[TSI][hapmap]
rs4875384	0.90[TSI][hapmap]
rs66776923	0.85[EUR][1000 genomes]
rs67623182	0.85[EUR][1000 genomes]
rs73181505	0.85[EUR][1000 genomes]
rs73181519	0.85[EUR][1000 genomes]
rs73181558	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73181561	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73181569	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73181581	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv34055	chr8:4486892-4745355	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv831216	chr8:4566554-4728115	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv437592	chr8:4610345-4718921	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv465393	chr8:4610345-4777295	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv609883	chr8:4610345-4777295	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv442086	chr8:4610897-4710428	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3692959	chr8:4611071-4711611	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv34237	chr8:4617778-4709513	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv34896	chr8:4617778-4718921	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1022129	chr8:4619724-4688555	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv870012	chr8:4626477-4689895	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv438023	chr8:4632105-4704541	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1021073	chr8:4634836-4741497	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv1849961	chr8:4636093-4739974	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv1031952	chr8:4638594-4691865	Weak transcription Active TSS Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv1015317	chr8:4638594-4701095	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv1024155	chr8:4654598-4698536	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv539403	chr8:4654598-4698536	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1015915	chr8:4654598-4719011	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1020515	chr8:4654598-4729060	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv1022294	chr8:4660204-4718921	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1023448	chr8:4679573-4698174	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv465398	chr8:4681869-4685954	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
28	nsv609890	chr8:4681869-4685954	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4681200-4693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4685800-4686000	Enhancers	HUES48 Cell Line	embryonic stem cell

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