Variant report

Variant	rs6992551
Chromosome Location	chr8:51647961-51647962
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10087228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087953	0.95[ASN][1000 genomes]
rs10097209	1.00[ASN][1000 genomes]
rs10097404	1.00[ASN][1000 genomes]
rs10099033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10101076	0.94[ASN][1000 genomes]
rs10110050	0.85[ASN][1000 genomes]
rs10111045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1018207	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10216649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10429378	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10958023	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10958026	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10958040	1.00[CEU][hapmap]
rs10958055	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10958056	0.93[EUR][1000 genomes]
rs10958059	0.96[EUR][1000 genomes]
rs10958060	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10958061	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10958066	0.98[ASN][1000 genomes]
rs10958080	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10958113	0.94[CEU][hapmap]
rs10958115	0.94[JPT][hapmap]
rs10958140	0.81[ASN][1000 genomes]
rs11774604	0.87[EUR][1000 genomes]
rs11774637	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11775633	0.94[JPT][hapmap]
rs11776122	0.88[EUR][1000 genomes]
rs11779072	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11783089	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs11785968	0.94[ASN][1000 genomes]
rs11984449	0.96[EUR][1000 genomes]
rs11986411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11988981	0.81[CEU][hapmap]
rs11989031	0.81[EUR][1000 genomes]
rs11991401	0.87[EUR][1000 genomes]
rs11992671	0.94[EUR][1000 genomes]
rs11993958	0.94[EUR][1000 genomes]
rs11997213	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs11997970	0.85[ASN][1000 genomes]
rs11998393	0.81[EUR][1000 genomes]
rs11998686	0.96[EUR][1000 genomes]
rs12375352	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs12542948	0.81[ASN][1000 genomes]
rs12544285	0.94[EUR][1000 genomes]
rs12546823	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs12548479	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12681280	0.99[ASN][1000 genomes]
rs12681303	1.00[ASN][1000 genomes]
rs13250468	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13251712	0.81[ASN][1000 genomes]
rs13251980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13254513	0.82[JPT][hapmap]
rs13257541	0.87[EUR][1000 genomes]
rs13258440	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13258680	0.81[ASN][1000 genomes]
rs13261493	0.83[ASN][1000 genomes]
rs13263172	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13264074	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13264295	0.92[EUR][1000 genomes]
rs13269724	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13270091	0.94[EUR][1000 genomes]
rs13271305	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13273663	0.82[JPT][hapmap]
rs13277400	0.81[ASN][1000 genomes]
rs1396377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1472907	0.85[ASN][1000 genomes]
rs1483642	0.83[JPT][hapmap]
rs1508621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1508622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1508623	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1508624	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1567311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16915257	0.89[EUR][1000 genomes]
rs16915261	0.94[EUR][1000 genomes]
rs16915285	0.94[EUR][1000 genomes]
rs16915320	0.94[EUR][1000 genomes]
rs16915417	0.83[ASN][1000 genomes]
rs1911830	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs1911835	0.99[ASN][1000 genomes]
rs1911836	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2048208	0.93[EUR][1000 genomes]
rs2170856	0.83[ASN][1000 genomes]
rs2170857	0.83[ASN][1000 genomes]
rs2202797	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2271203	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs2392741	0.85[YRI][hapmap]
rs2392761	1.00[ASN][1000 genomes]
rs28432973	0.92[EUR][1000 genomes]
rs28470779	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28647321	0.98[ASN][1000 genomes]
rs28683156	0.89[ASN][1000 genomes]
rs28815525	1.00[ASN][1000 genomes]
rs34316210	0.87[EUR][1000 genomes]
rs34473019	0.94[CEU][hapmap]
rs34486025	1.00[ASN][1000 genomes]
rs34871864	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs35108997	0.81[EUR][1000 genomes]
rs35521388	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751430	0.87[EUR][1000 genomes]
rs3999808	1.00[ASN][1000 genomes]
rs4242462	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4382493	0.83[ASN][1000 genomes]
rs4422788	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4873153	0.85[ASN][1000 genomes]
rs4873155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873479	0.81[ASN][1000 genomes]
rs6473292	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6473319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473337	0.83[JPT][hapmap]
rs66730072	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67434971	0.94[EUR][1000 genomes]
rs67729017	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67769978	0.94[EUR][1000 genomes]
rs6981207	0.83[ASN][1000 genomes]
rs6981429	0.83[ASN][1000 genomes]
rs6985321	0.83[ASN][1000 genomes]
rs6987633	0.85[ASN][1000 genomes]
rs6988562	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6988854	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6990102	0.89[CEU][hapmap]
rs6991518	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6999211	0.85[ASN][1000 genomes]
rs7002119	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7009895	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7012338	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013183	1.00[ASN][1000 genomes]
rs7013366	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7015370	0.83[ASN][1000 genomes]
rs7016914	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7018197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713179	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs717509	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7460470	1.00[ASN][1000 genomes]
rs7812344	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816024	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7820724	0.83[ASN][1000 genomes]
rs7822224	0.94[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs7823683	0.94[EUR][1000 genomes]
rs7829079	1.00[ASN][1000 genomes]
rs7831359	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7832799	0.94[CEU][hapmap]
rs7833823	0.83[ASN][1000 genomes]
rs7834256	0.99[ASN][1000 genomes]
rs7834585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844393	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7845831	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs936722	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019760	chr8:51628619-51862150	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1029698	chr8:51628619-51863635	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3413384	chr8:51646474-51648547	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51608000-51648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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