Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:209749002..209750989-chr1:209793739..209796003,2	MCF-7	breast:
2	chr1:209749329..209750696-chr1:209865953..209867157,8	K562	blood:
3	chr1:209749053..209751120-chr1:209781399..209783226,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10489338	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119308	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11119309	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12058586	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs12069172	0.82[ASN][1000 genomes]
rs12074063	0.90[ASN][1000 genomes]
rs12080730	0.82[ASN][1000 genomes]
rs12094286	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs17014758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17014770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17014808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17014825	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17014842	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs2067744	0.83[ASN][1000 genomes]
rs2072908	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2076225	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs60686175	0.83[ASN][1000 genomes]
rs6663545	0.83[ASN][1000 genomes]
rs6690557	0.89[CHB][hapmap]
rs7512091	0.83[ASN][1000 genomes]
rs926385	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9429821	0.89[CHB][hapmap]
rs9429822	0.82[ASN][1000 genomes]
rs9430000	0.94[CHB][hapmap];0.96[ASN][1000 genomes]
rs9430001	0.93[CHB][hapmap]
rs9430005	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209744000-209750200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:209748600-209750200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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