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:30)

rs_ID	r²[population]
rs13382469	1.00[CHB][hapmap]
rs13396415	1.00[CHB][hapmap]
rs1375605	0.81[EUR][1000 genomes]
rs1375608	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1449483	0.81[EUR][1000 genomes]
rs1449488	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1562704	0.81[EUR][1000 genomes]
rs17776027	0.92[EUR][1000 genomes]
rs17776043	0.92[EUR][1000 genomes]
rs2290142	0.86[EUR][1000 genomes]
rs4662397	0.86[EUR][1000 genomes]
rs4662398	0.86[EUR][1000 genomes]
rs6707007	0.84[EUR][1000 genomes]
rs72847083	0.86[EUR][1000 genomes]
rs72847089	0.86[EUR][1000 genomes]
rs72849805	0.86[EUR][1000 genomes]
rs72849811	0.86[EUR][1000 genomes]
rs72849830	0.88[EUR][1000 genomes]
rs72849836	0.88[EUR][1000 genomes]
rs72849851	0.88[EUR][1000 genomes]
rs72851456	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72851466	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72852610	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72852633	0.90[EUR][1000 genomes]
rs72852654	0.92[EUR][1000 genomes]
rs72853430	0.83[EUR][1000 genomes]
rs72853432	0.83[EUR][1000 genomes]
rs72853692	0.86[EUR][1000 genomes]
rs7594671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs895936	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv211566	chr2:142879478-142879480	Weak transcription	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	chr2:142877800-142884000	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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