Variant report

Variant	rs2724959
Chromosome Location	chr8:4518980-4518981
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10092354	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10282918	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1038058	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs1038060	0.83[CHB][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap]
rs11136761	0.86[CHB][hapmap]
rs12550650	0.85[CHB][hapmap]
rs1351105	0.82[CEU][hapmap]
rs1531532	0.86[JPT][hapmap]
rs1993869	0.91[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2045867	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2169740	0.86[JPT][hapmap]
rs2248448	0.91[CHB][hapmap];0.83[CHD][hapmap]
rs2617018	0.83[ASN][1000 genomes]
rs2617019	0.86[CHB][hapmap]
rs2617020	0.86[CHB][hapmap]
rs2617026	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2617027	0.96[CEU][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2617029	0.92[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2617031	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2617032	0.92[ASN][1000 genomes]
rs2617034	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2617035	0.88[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617037	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2617043	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2617044	0.80[MEX][hapmap]
rs2617045	0.86[JPT][hapmap]
rs2724996	0.89[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2724997	0.81[ASW][hapmap];0.89[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2724998	0.81[CEU][hapmap]
rs2724999	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs2725000	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs2725001	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2725004	0.86[JPT][hapmap];0.86[MEX][hapmap]
rs2725017	0.84[CHB][hapmap]
rs720665	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7816766	0.87[CHB][hapmap]
rs899144	0.82[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv428513	chr8:4435878-4613986	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1844135	chr8:4442963-4602387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2422279	chr8:4458646-4641684	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv465386	chr8:4467334-4676661	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv609861	chr8:4467334-4676661	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv831214	chr8:4498127-4679475	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1033283	chr8:4503347-4625732	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1028597	chr8:4510821-4611710	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv539396	chr8:4510821-4611710	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv609877	chr8:4517817-4626560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4518400-4521200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:4518600-4521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:4518800-4519200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:4518800-4520000	Weak transcription	Fetal Brain Male	brain
5	chr8:4518800-4520200	Enhancers	Cortex derived primary cultured neurospheres	brain

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