Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113670809..113673681-chr2:113692712..113695709,2	MCF-7	breast:
2	chr2:113692325..113694742-chr2:113763398..113765744,2	K562	blood:

Variant related genes	Relation type
ENSG00000125571	Chromatin interaction

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

rs_ID	r²[population]
rs10178396	0.86[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs10199311	0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs10221977	0.92[ASN][1000 genomes]
rs10864908	0.90[ASN][1000 genomes]
rs11123153	0.90[ASN][1000 genomes]
rs11893071	0.98[ASN][1000 genomes]
rs12467810	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12467847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12468164	0.91[ASN][1000 genomes]
rs12471839	0.98[ASN][1000 genomes]
rs12617864	0.97[ASN][1000 genomes]
rs12711745	0.92[ASN][1000 genomes]
rs12987491	0.84[ASN][1000 genomes]
rs2068777	0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs2708932	0.84[ASN][1000 genomes]
rs2723163	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4077216	0.99[ASN][1000 genomes]
rs4254516	0.92[ASN][1000 genomes]
rs4387792	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4538207	0.92[ASN][1000 genomes]
rs4848309	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6716380	0.98[ASN][1000 genomes]
rs6723582	0.98[ASN][1000 genomes]
rs6735589	0.84[ASN][1000 genomes]
rs6747618	0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7557537	0.92[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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv2750599	chr2:113693400-113694435	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113693400-113695800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:113693600-113694000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:113693600-113694000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr2:113693600-113694400	Flanking Active TSS	K562	blood
5	chr2:113693800-113694200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:113693800-113694200	Enhancers	NH-A	brain

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