Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142870857..142873043-chr2:142887143..142889170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168702	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10186143	0.90[AFR][1000 genomes]
rs13029758	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13382469	1.00[CHB][hapmap]
rs13396415	1.00[CHB][hapmap]
rs1375605	0.92[EUR][1000 genomes]
rs1449483	0.92[EUR][1000 genomes]
rs1449488	0.80[EUR][1000 genomes]
rs1562704	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17776027	0.86[EUR][1000 genomes]
rs17776043	0.86[EUR][1000 genomes]
rs2290142	0.80[EUR][1000 genomes]
rs4662397	0.80[EUR][1000 genomes]
rs4662398	0.80[EUR][1000 genomes]
rs6707007	0.82[EUR][1000 genomes]
rs6728101	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72847083	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72847089	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72849805	0.98[EUR][1000 genomes]
rs72849811	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72849830	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72849836	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72849851	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72851456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72851466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72852610	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72852633	0.84[EUR][1000 genomes]
rs72852654	0.86[EUR][1000 genomes]
rs72853692	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7583748	1.00[CEU][hapmap]
rs7594671	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs895936	0.88[CEU][hapmap];1.00[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142869400-142871600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:142870000-142871400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:142870000-142878400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:142870200-142871000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:142870200-142871200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:142870200-142871400	Enhancers	Hela-S3	cervix
7	chr2:142870600-142871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:142870600-142871400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:142870600-142871400	Enhancers	Brain Substantia Nigra	brain
10	chr2:142870800-142877400	Weak transcription	Brain Anterior Caudate	brain

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