Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142856831..142859163-chr2:142860211..142863049,2	MCF-7	breast:
2	chr2:142860532..142863086-chr2:142865572..142867375,2	MCF-7	breast:

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

rs_ID	r²[population]
rs13029758	0.81[EUR][1000 genomes]
rs13398962	1.00[MEX][hapmap]
rs1375605	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1375608	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1449483	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1449488	0.87[EUR][1000 genomes]
rs16848084	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2290142	0.87[EUR][1000 genomes]
rs4662397	0.87[EUR][1000 genomes]
rs4662398	0.87[EUR][1000 genomes]
rs6707007	0.89[EUR][1000 genomes]
rs72847083	0.91[EUR][1000 genomes]
rs72847089	0.91[EUR][1000 genomes]
rs72849805	0.91[EUR][1000 genomes]
rs72849811	0.91[EUR][1000 genomes]
rs72849830	0.92[EUR][1000 genomes]
rs72849836	0.92[EUR][1000 genomes]
rs72849851	0.92[EUR][1000 genomes]
rs72851456	0.92[EUR][1000 genomes]
rs72851466	0.92[EUR][1000 genomes]
rs72852610	0.84[EUR][1000 genomes]
rs72853692	0.91[EUR][1000 genomes]
rs72992499	0.90[ASN][1000 genomes]
rs72996320	0.94[ASN][1000 genomes]
rs7583748	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs895936	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875254	chr2:142833327-142931146	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142857400-142862800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:142860800-142863000	Enhancers	Brain Angular Gyrus	brain
3	chr2:142861000-142862600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:142861200-142862200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:142861200-142862200	Enhancers	Brain Anterior Caudate	brain
6	chr2:142861400-142862400	Enhancers	Brain Hippocampus Middle	brain
7	chr2:142861400-142862600	Enhancers	Brain Germinal Matrix	brain
8	chr2:142861600-142863000	Enhancers	Hela-S3	cervix
9	chr2:142861800-142862000	Flanking Active TSS	Brain Substantia Nigra	brain

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