Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221347435..221349453-chr1:221351674..221353508,2	K562	blood:
2	chr1:221285051..221286757-chr1:221347141..221349815,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11118661	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118693	1.00[EUR][1000 genomes]
rs11118695	1.00[EUR][1000 genomes]
rs11118697	1.00[EUR][1000 genomes]
rs11804822	1.00[EUR][1000 genomes]
rs11811531	1.00[EUR][1000 genomes]
rs12057905	1.00[EUR][1000 genomes]
rs12058952	1.00[EUR][1000 genomes]
rs12070831	1.00[EUR][1000 genomes]
rs12072517	1.00[EUR][1000 genomes]
rs12073583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077976	1.00[EUR][1000 genomes]
rs12085527	1.00[EUR][1000 genomes]
rs12086603	1.00[EUR][1000 genomes]
rs12086869	1.00[EUR][1000 genomes]
rs12087664	1.00[EUR][1000 genomes]
rs12097387	1.00[EUR][1000 genomes]
rs17009637	1.00[AMR][1000 genomes]
rs58220035	1.00[EUR][1000 genomes]
rs58582639	1.00[EUR][1000 genomes]
rs60865356	1.00[EUR][1000 genomes]
rs61501165	1.00[EUR][1000 genomes]
rs6663534	1.00[EUR][1000 genomes]
rs6667275	1.00[EUR][1000 genomes]
rs73101522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73101523	1.00[AMR][1000 genomes]
rs74143437	1.00[EUR][1000 genomes]
rs74144384	1.00[EUR][1000 genomes]
rs74144425	1.00[EUR][1000 genomes]
rs7522887	1.00[EUR][1000 genomes]
rs7536615	1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221345400-221351000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:221346000-221349000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221346400-221350800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:221347400-221349200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:221347800-221348800	Enhancers	Left Ventricle	heart
6	chr1:221347800-221348800	Enhancers	Right Ventricle	heart
7	chr1:221348000-221348800	Enhancers	Pancreas	Pancrea
8	chr1:221348000-221348800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:221348000-221348800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:221348600-221348800	Enhancers	Fetal Heart	heart
11	chr1:221348600-221348800	Enhancers	Psoas Muscle	Psoas
12	chr1:221348600-221350800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:221348600-221356200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:221348600-221356200	Weak transcription	Primary hematopoietic stem cells	blood

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