Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142874759..142876508-chr2:142879340..142881781,2	MCF-7	breast:
2	chr2:142879155..142881671-chr2:142888554..142890515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168702	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10193058	0.86[CHB][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs10496912	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10496913	0.86[EUR][1000 genomes]
rs11686843	0.91[ASN][1000 genomes]
rs11693460	0.94[ASN][1000 genomes]
rs12613064	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs12613097	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs13429550	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1375611	0.84[JPT][hapmap]
rs1449479	0.86[CHB][hapmap]
rs16848074	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs16848107	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs17826042	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1900936	0.83[JPT][hapmap]
rs2290140	0.91[JPT][hapmap]
rs2290141	0.82[ASN][1000 genomes]
rs4662219	0.83[JPT][hapmap]
rs7586417	0.85[JPT][hapmap]
rs970600	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970601	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973706	0.82[CHB][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142877800-142884000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:142878200-142886800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:142878400-142883400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:142878800-142882400	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:142879200-142887000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:142879400-142882400	Weak transcription	Brain Substantia Nigra	brain

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