Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234861030..234863586-chr2:234874860..234877579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144481	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10174012	1.00[EUR][1000 genomes]
rs10177507	1.00[EUR][1000 genomes]
rs28900412	1.00[YRI][hapmap]
rs28900680	1.00[YRI][hapmap]
rs28901651	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28903676	1.00[EUR][1000 genomes]
rs28903677	1.00[EUR][1000 genomes]
rs28903679	1.00[EUR][1000 genomes]
rs28903686	1.00[EUR][1000 genomes]
rs28903693	1.00[EUR][1000 genomes]
rs28903971	1.00[EUR][1000 genomes]
rs28903987	1.00[EUR][1000 genomes]
rs28903992	1.00[EUR][1000 genomes]
rs28903998	1.00[EUR][1000 genomes]
rs28904021	1.00[EUR][1000 genomes]
rs28948682	1.00[EUR][1000 genomes]
rs73113209	1.00[EUR][1000 genomes]
rs73124598	1.00[EUR][1000 genomes]
rs73124600	1.00[EUR][1000 genomes]
rs73124601	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234849400-234883400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:234849600-234873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:234861800-234863000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:234862600-234882200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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