Variant report

Variant	rs2118564
Chromosome Location	chr8:4711611-4711612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10503286	0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs12543335	0.82[ASW][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap]
rs12546536	1.00[JPT][hapmap]
rs12548370	0.85[MEX][hapmap]
rs12548690	1.00[JPT][hapmap]
rs13271740	1.00[JPT][hapmap]
rs1379323	1.00[CHB][hapmap]
rs1457193	1.00[JPT][hapmap]
rs1561360	1.00[JPT][hapmap]
rs1585165	0.85[MEX][hapmap]
rs1585166	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17347911	0.88[ASN][1000 genomes]
rs17432441	1.00[JPT][hapmap]
rs17432649	1.00[CHB][hapmap]
rs2028227	0.82[ASW][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap]
rs2028228	0.82[ASW][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap]
rs2407668	0.86[MEX][hapmap]
rs34880000	0.91[AFR][1000 genomes]
rs4875396	1.00[JPT][hapmap]
rs4875397	1.00[JPT][hapmap]
rs55777483	0.88[ASN][1000 genomes]
rs56138441	0.88[ASN][1000 genomes]
rs6558923	1.00[JPT][hapmap]
rs67494490	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984688	1.00[JPT][hapmap]
rs7006552	1.00[JPT][hapmap]
rs7820227	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
11	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
12	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
13	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
14	nsv1015915	chr8:4654598-4719011	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1020515	chr8:4654598-4729060	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1022294	chr8:4660204-4718921	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	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
18	nsv982087	chr8:4696669-4719081	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv889974	chr8:4697630-4738999	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv889975	chr8:4697630-4748952	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv437593	chr8:4704541-4761765	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4709600-4711800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr8:4711400-4712000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:4711600-4712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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