Variant report

Variant	rs6473289
Chromosome Location	chr8:51593888-51593889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51590048..51591794-chr8:51592149..51596284,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10086876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10098054	1.00[JPT][hapmap]
rs10099354	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10099939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10101945	1.00[JPT][hapmap]
rs10481269	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10481271	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12114158	0.85[JPT][hapmap]
rs12674534	1.00[JPT][hapmap]
rs12676534	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12678401	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12678416	1.00[JPT][hapmap]
rs12678417	1.00[JPT][hapmap]
rs12682636	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1355066	0.85[JPT][hapmap]
rs1355067	1.00[JPT][hapmap]
rs16915275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16915315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16915358	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1911832	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28520704	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28830520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28875312	0.88[ASN][1000 genomes]
rs41364346	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4146358	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4146359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4873467	0.81[CHB][hapmap]
rs56267139	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58540522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347506	0.93[ASN][1000 genomes]
rs6473290	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473320	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6473338	1.00[JPT][hapmap]
rs6473339	1.00[JPT][hapmap]
rs6473378	1.00[JPT][hapmap]
rs6473379	1.00[JPT][hapmap]
rs6473380	1.00[JPT][hapmap]
rs6473434	1.00[JPT][hapmap]
rs6985954	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6987141	1.00[ASN][1000 genomes]
rs6988284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6989519	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992531	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993206	1.00[JPT][hapmap]
rs6996807	1.00[JPT][hapmap]
rs6997493	1.00[JPT][hapmap]
rs6998678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7003138	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7003165	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7005117	1.00[JPT][hapmap]
rs7009493	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7012353	1.00[JPT][hapmap]
rs7012490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015560	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7016907	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017534	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017695	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017813	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341612	1.00[JPT][hapmap]
rs73569441	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73571208	0.93[ASN][1000 genomes]
rs7814559	1.00[JPT][hapmap]
rs7820529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7821117	1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7821535	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7824055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831414	1.00[JPT][hapmap]
rs7831880	1.00[JPT][hapmap]
rs7832680	1.00[JPT][hapmap]
rs7840544	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7841003	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843332	1.00[JPT][hapmap]
rs7846084	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9298378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs998000	1.00[JPT][hapmap];0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51570200-51595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51592000-51596000	Weak transcription	Brain Germinal Matrix	brain
3	chr8:51593400-51594600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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