Variant report

Variant	rs17348575
Chromosome Location	chr8:4751166-4751167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10081492	1.00[CHB][hapmap]
rs10105204	0.90[CEU][hapmap]
rs11136782	0.90[CEU][hapmap]
rs11136788	0.90[CEU][hapmap]
rs12542055	0.82[CEU][hapmap]
rs13252258	0.82[CEU][hapmap]
rs1370756	0.80[CEU][hapmap]
rs1370757	0.89[CEU][hapmap]
rs1561355	0.90[CEU][hapmap]
rs17348514	1.00[CEU][hapmap]
rs17348582	0.89[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17433116	0.90[CEU][hapmap]
rs2028234	0.88[CEU][hapmap]
rs4875408	1.00[CHB][hapmap]
rs6558931	0.90[CEU][hapmap]
rs6558932	0.90[CEU][hapmap]
rs6558933	0.82[CEU][hapmap]
rs6984581	0.90[CEU][hapmap]
rs6986027	0.90[CEU][hapmap]
rs7004000	0.90[CEU][hapmap]
rs7004168	0.90[CEU][hapmap]
rs7011787	0.82[CEU][hapmap]
rs9650521	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1020907	chr8:4693024-4801941	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv437593	chr8:4704541-4761765	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2761226	chr8:4717499-4754777	Enhancers Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv609894	chr8:4718648-4755645	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv470175	chr8:4718648-4755809	Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv818585	chr8:4718648-4755809	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3692960	chr8:4718648-4755990	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv515524	chr8:4718648-4757384	Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1022889	chr8:4718921-4754777	Enhancers Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv442087	chr8:4718921-4754781	Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv609895	chr8:4718921-4755645	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv514469	chr8:4718982-4754532	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1018423	chr8:4741805-4759133	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
19	nsv889976	chr8:4750266-4824335	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4749600-4751400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:4749800-4751600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:4750600-4751600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:4751000-4751400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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