Variant report

Variant	rs1625889
Chromosome Location	chr8:4085763-4085764
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10094300	0.93[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap]
rs10107660	0.81[CEU][hapmap]
rs10108686	0.93[CHB][hapmap]
rs11992222	0.93[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap]
rs11993028	0.93[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap]
rs11995514	0.92[CHB][hapmap]
rs13272378	0.93[CHB][hapmap];0.88[GIH][hapmap]
rs1621526	0.82[CEU][hapmap]
rs1647322	0.82[EUR][1000 genomes]
rs1700049	0.81[GIH][hapmap]
rs1700055	0.93[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs1700059	0.82[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs1700062	0.82[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap]
rs1714677	0.86[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1714683	0.93[CHB][hapmap];0.82[GIH][hapmap]
rs1714720	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs1714728	0.81[CEU][hapmap]
rs1714821	0.81[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs2680628	0.83[EUR][1000 genomes]
rs3843924	0.82[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs7822178	0.81[GIH][hapmap]
rs7822226	0.93[CHB][hapmap]
rs7829008	0.92[CHB][hapmap]
rs939151	0.82[CEU][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv530863	chr8:3710810-4381378	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv931000	chr8:3791727-4088167	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv889924	chr8:3828138-4180844	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1015148	chr8:3889535-4103403	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv539366	chr8:3889535-4103403	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv831213	chr8:3965026-4127303	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1034771	chr8:3969767-4255716	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1022900	chr8:3979200-4098778	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv539376	chr8:3979200-4098778	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1028911	chr8:4026505-4139686	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1030282	chr8:4026751-4100659	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	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
16	nsv1032685	chr8:4040574-4134994	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv523605	chr8:4041356-4108050	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv609817	chr8:4052459-4134874	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv2422512	chr8:4052638-4127242	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1019627	chr8:4054508-4130522	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv539380	chr8:4054508-4130522	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1032367	chr8:4056920-4100659	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv539381	chr8:4056920-4100659	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1032488	chr8:4072826-4328057	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv1031418	chr8:4082666-4127764	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1625889	CLN8	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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