Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223472503..223474796-chr1:223478639..223480943,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1356480	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1400960	0.83[EUR][1000 genomes]
rs1400962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518039	0.91[ASN][1000 genomes]
rs1518044	0.86[EUR][1000 genomes]
rs1713206	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1713221	0.93[ASN][1000 genomes]
rs17517806	0.93[ASN][1000 genomes]
rs1772271	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772273	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1772275	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1772277	0.83[ASN][1000 genomes]
rs2138967	0.93[ASN][1000 genomes]
rs2138968	0.88[ASN][1000 genomes]
rs35360808	0.91[ASN][1000 genomes]
rs35636122	0.91[ASN][1000 genomes]
rs35737777	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712856	0.96[ASN][1000 genomes]
rs825113	0.83[EUR][1000 genomes]
rs825114	0.83[EUR][1000 genomes]
rs825124	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs825125	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv518979	chr1:223468336-223488310	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223466400-223480400	Weak transcription	Pancreas	Pancrea
2	chr1:223470000-223493200	Weak transcription	Esophagus	oesophagus
3	chr1:223473000-223484400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:223475800-223480800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:223476000-223482000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:223476200-223480800	Weak transcription	Thymus	Thymus
7	chr1:223476200-223481200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:223476200-223481600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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