Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:2225670..2229618-chr8:2230398..2233862,3	K562	blood:
2	chr8:2225703..2227208-chr8:2229536..2232273,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1020983	1.00[ASN][1000 genomes]
rs1122332	1.00[ASN][1000 genomes]
rs12549637	1.00[ASN][1000 genomes]
rs1614403	1.00[ASN][1000 genomes]
rs1869752	1.00[ASN][1000 genomes]
rs2127174	1.00[ASN][1000 genomes]
rs2445955	1.00[ASN][1000 genomes]
rs2618842	1.00[ASN][1000 genomes]
rs316474	1.00[ASN][1000 genomes]
rs57066430	1.00[ASN][1000 genomes]
rs61602506	1.00[ASN][1000 genomes]
rs62501177	1.00[ASN][1000 genomes]
rs62501179	1.00[ASN][1000 genomes]
rs62501212	1.00[ASN][1000 genomes]
rs62501259	1.00[ASN][1000 genomes]
rs62502695	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62502698	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62502699	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982332	1.00[ASN][1000 genomes]
rs7011841	1.00[ASN][1000 genomes]
rs71519826	1.00[ASN][1000 genomes]
rs71519831	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71519832	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71519836	1.00[ASN][1000 genomes]
rs717920	1.00[ASN][1000 genomes]
rs7820143	1.00[ASN][1000 genomes]
rs9773479	1.00[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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 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	chr8:2224200-2227200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:2225600-2228000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:2226000-2227600	Enhancers	HSMMtube	muscle

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