Variant report

Variant	rs996523
Chromosome Location	chr8:51461272-51461273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10090266	0.85[CHB][hapmap]
rs10101856	0.85[CHB][hapmap]
rs1017841	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs10808829	0.81[CHB][hapmap]
rs10957914	0.81[CHB][hapmap]
rs10957915	0.92[CHB][hapmap]
rs10957916	0.92[CHB][hapmap];0.88[YRI][hapmap]
rs1114500	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs11775411	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11995834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12216754	0.85[CHB][hapmap]
rs12541766	0.85[CHB][hapmap]
rs12543175	0.84[ASN][1000 genomes]
rs12544937	0.84[ASN][1000 genomes]
rs12545254	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12546758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13248847	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13251708	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13258865	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13274680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1383818	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1471578	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs1481469	0.85[CHB][hapmap]
rs1481472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1481475	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1481476	0.85[CHB][hapmap]
rs1481477	0.85[CHB][hapmap]
rs1481482	0.82[AMR][1000 genomes]
rs1483636	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1483643	0.82[AMR][1000 genomes]
rs1483644	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes]
rs1483645	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1542613	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1542615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs192844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1971259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1994031	0.80[AMR][1000 genomes]
rs2062038	0.93[CHB][hapmap];0.89[YRI][hapmap]
rs2068238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2128000	0.81[CHB][hapmap]
rs2251415	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes]
rs2392627	0.92[CHB][hapmap];0.88[YRI][hapmap]
rs2392699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2467205	0.81[CHB][hapmap]
rs2623207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623210	0.86[AMR][1000 genomes]
rs2623211	0.82[AMR][1000 genomes]
rs2623215	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623216	0.82[AMR][1000 genomes]
rs2623224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2623225	0.82[AMR][1000 genomes]
rs2625736	0.81[CHB][hapmap]
rs2625739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2625750	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625751	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625752	0.82[AMR][1000 genomes]
rs2625753	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625755	0.82[AMR][1000 genomes]
rs2930096	0.82[AMR][1000 genomes]
rs310557	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs310558	0.81[CHB][hapmap]
rs310562	0.94[YRI][hapmap]
rs310570	1.00[CEU][hapmap]
rs310574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs310576	0.94[YRI][hapmap]
rs3919897	0.85[CHB][hapmap]
rs4440649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4442158	0.81[CHB][hapmap]
rs4538902	0.85[CHB][hapmap]
rs4577970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873147	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs4873149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4873457	0.92[CHB][hapmap];0.88[YRI][hapmap]
rs4873458	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs4873459	0.81[CHB][hapmap]
rs6473124	0.85[CHB][hapmap]
rs6473144	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs6983589	0.93[CHB][hapmap];0.88[YRI][hapmap]
rs7007612	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015139	0.92[CHB][hapmap];0.82[YRI][hapmap]
rs7817955	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs7826421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7827319	0.81[CHB][hapmap]
rs7836540	0.92[ASN][1000 genomes]
rs7842092	0.93[CHB][hapmap];0.89[YRI][hapmap]
rs9298323	0.92[CHB][hapmap]
rs9643435	0.85[CHB][hapmap]
rs9650165	0.92[CHB][hapmap];0.88[YRI][hapmap]
rs9650166	0.93[CHB][hapmap];0.89[YRI][hapmap]
rs996524	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	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
7	nsv1022304	chr8:51442784-51475071	ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv539608	chr8:51442784-51475071	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	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:3 , 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
2	chr8:51457400-51469400	Weak transcription	Brain Germinal Matrix	brain
3	chr8:51458200-51469400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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