Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:212351236..212353936-chr1:212380714..212382425,3	K562	blood:
2	chr1:212347420..212350421-chr1:212350572..212353527,5	K562	blood:
3	chr1:212350500..212353669-chr1:212356287..212359186,4	K562	blood:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10863948	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863951	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119869	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119872	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119876	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119877	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119878	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12085064	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12086905	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6691330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212336800-212359600	Weak transcription	Dnd41	blood
2	chr1:212345600-212352600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:212350600-212359600	Weak transcription	K562	blood
4	chr1:212351600-212352800	Enhancers	Adipose Nuclei	Adipose
5	chr1:212351600-212353000	Enhancers	Psoas Muscle	Psoas
6	chr1:212351600-212353200	Enhancers	Placenta	Placenta
7	chr1:212351600-212353200	Enhancers	Left Ventricle	heart
8	chr1:212351600-212354200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:212351800-212352600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:212351800-212352600	Weak transcription	Esophagus	oesophagus
11	chr1:212351800-212352600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:212352000-212352400	Weak transcription	Lung	lung
13	chr1:212352000-212352600	Enhancers	Fetal Heart	heart
14	chr1:212352000-212352600	Enhancers	NHDF-Ad	bronchial
15	chr1:212352000-212352600	Enhancers	NHEK	skin
16	chr1:212352000-212353000	Enhancers	Fetal Thymus	thymus
17	chr1:212352000-212353000	Enhancers	Right Atrium	heart
18	chr1:212352000-212353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:212352000-212354200	Enhancers	HMEC	breast
20	chr1:212352000-212354400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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