Variant report

Variant	rs1472907
Chromosome Location	chr8:51594635-51594636
allele	C/T
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: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10087228	0.85[ASN][1000 genomes]
rs10087953	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10097209	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10097404	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10099033	0.87[ASN][1000 genomes]
rs10101076	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10110050	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111045	0.81[EUR][1000 genomes]
rs10216649	0.87[ASN][1000 genomes]
rs10429378	1.00[ASN][1000 genomes]
rs10958023	1.00[ASN][1000 genomes]
rs10958026	1.00[ASN][1000 genomes]
rs10958061	0.85[ASN][1000 genomes]
rs10958065	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10958066	0.85[ASN][1000 genomes]
rs11785968	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11997970	1.00[ASN][1000 genomes]
rs12681280	0.84[ASN][1000 genomes]
rs12681303	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13250468	0.98[ASN][1000 genomes]
rs13251712	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13251980	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13252863	0.89[EUR][1000 genomes]
rs13263172	0.96[ASN][1000 genomes]
rs1396377	1.00[ASN][1000 genomes]
rs1508621	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1508622	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1508623	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1567311	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1911835	0.84[ASN][1000 genomes]
rs2202797	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2392761	0.85[ASN][1000 genomes]
rs28470779	0.87[ASN][1000 genomes]
rs28647321	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28815525	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34486025	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34871864	1.00[ASN][1000 genomes]
rs35521388	0.85[ASN][1000 genomes]
rs3999808	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4242462	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873153	1.00[ASN][1000 genomes]
rs4873155	0.90[ASN][1000 genomes]
rs6473292	0.92[ASN][1000 genomes]
rs6473319	0.85[ASN][1000 genomes]
rs66730072	0.85[ASN][1000 genomes]
rs67729017	0.88[ASN][1000 genomes]
rs6987633	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991518	0.90[ASN][1000 genomes]
rs6992341	0.87[ASN][1000 genomes]
rs6992551	0.85[ASN][1000 genomes]
rs6999211	1.00[ASN][1000 genomes]
rs7002119	0.89[ASN][1000 genomes]
rs7009895	0.86[ASN][1000 genomes]
rs7011647	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7012338	0.90[ASN][1000 genomes]
rs7013183	0.85[ASN][1000 genomes]
rs7013366	1.00[ASN][1000 genomes]
rs7018197	0.85[ASN][1000 genomes]
rs7460470	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7812344	0.85[ASN][1000 genomes]
rs7822224	0.84[ASN][1000 genomes]
rs7829079	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7834256	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7834585	0.85[ASN][1000 genomes]
rs7844393	0.98[ASN][1000 genomes]
rs7845831	0.85[ASN][1000 genomes]
rs906656	0.90[EUR][1000 genomes]

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:6 , 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	chr8:51594400-51594800	Enhancers	NH-A	brain
4	chr8:51594400-51596200	Enhancers	Liver	Liver
5	chr8:51594600-51595200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:51594600-51596400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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