Variant report

Variant	rs310562
Chromosome Location	chr8:51445011-51445012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1017841	0.82[YRI][hapmap]
rs10957916	0.82[YRI][hapmap]
rs10957941	0.83[ASN][1000 genomes]
rs11775411	0.93[YRI][hapmap]
rs11785117	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs11995834	0.94[YRI][hapmap]
rs12543066	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12545254	0.86[AFR][1000 genomes]
rs12546758	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs12547235	0.83[ASN][1000 genomes]
rs12547263	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs13248847	0.86[AFR][1000 genomes]
rs13274680	0.94[YRI][hapmap]
rs13276494	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1383818	0.94[YRI][hapmap]
rs1383819	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1481472	0.86[ASW][hapmap];0.80[LWK][hapmap];0.94[YRI][hapmap]
rs1481475	0.82[YRI][hapmap]
rs1483636	0.82[AFR][1000 genomes]
rs1483645	0.83[AFR][1000 genomes]
rs1542613	0.83[AFR][1000 genomes]
rs1542614	0.89[CHB][hapmap]
rs16919578	0.83[ASN][1000 genomes]
rs1904996	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs192844	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs1994032	0.89[CHB][hapmap]
rs2062038	0.82[YRI][hapmap]
rs2068238	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs2086517	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs218876	0.89[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2392627	0.82[YRI][hapmap]
rs2392699	0.86[ASW][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs2448934	0.89[CHB][hapmap]
rs2448935	0.89[CHB][hapmap]
rs2448940	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2467203	0.89[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2623207	0.86[ASW][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs2623214	0.89[CHB][hapmap]
rs2623215	0.83[AFR][1000 genomes]
rs2623221	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2623222	0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2623224	0.94[YRI][hapmap]
rs2625733	0.89[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2625739	0.94[YRI][hapmap]
rs2625740	0.80[ASN][1000 genomes]
rs2625750	0.83[AFR][1000 genomes]
rs2625751	0.83[AFR][1000 genomes]
rs2625753	0.83[AFR][1000 genomes]
rs2625754	1.00[CHB][hapmap]
rs2625757	0.86[CHB][hapmap]
rs2625758	0.89[CHB][hapmap]
rs310557	0.84[AFR][1000 genomes]
rs310574	0.86[ASW][hapmap];0.80[LWK][hapmap];0.94[YRI][hapmap]
rs310575	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs310576	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310577	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs34880125	0.83[ASN][1000 genomes]
rs4440649	0.80[LWK][hapmap];0.86[YRI][hapmap]
rs4577970	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs4873148	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4873149	0.94[YRI][hapmap]
rs4873457	0.82[YRI][hapmap]
rs6473144	0.82[YRI][hapmap]
rs6983589	0.81[YRI][hapmap]
rs7007612	0.84[AFR][1000 genomes]
rs7817955	0.82[YRI][hapmap]
rs7826421	0.94[YRI][hapmap]
rs7842092	0.82[YRI][hapmap]
rs9650165	0.82[YRI][hapmap]
rs9650166	0.82[YRI][hapmap]
rs996521	0.89[CHB][hapmap]
rs996522	0.89[CHB][hapmap]
rs996523	0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3365669	chr8:51416448-51446878	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3426268	chr8:51416448-51448918	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1029576	chr8:51418003-51476385	ZNF genes & repeats Strong transcription Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1022304	chr8:51442784-51475071	ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
10	nsv539608	chr8:51442784-51475071	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	nsv1030044	chr8:51442827-51476385	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51441000-51469200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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