Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234216148..234218067-chr2:234242398..234244264,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130561	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11886745	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12472475	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12474375	0.88[AMR][1000 genomes]
rs12477844	0.83[AMR][1000 genomes]
rs12615904	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12617453	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12623795	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13432541	0.81[ASN][1000 genomes]
rs1441090	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs35502484	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4663147	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4663402	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4663420	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4663421	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs4663490	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4663508	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57215884	0.88[AMR][1000 genomes]
rs58040982	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60722254	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61663609	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73110037	0.81[ASN][1000 genomes]
rs73110098	0.81[ASN][1000 genomes]
rs7587485	0.81[ASN][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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234205400-234219800	Weak transcription	Spleen	Spleen
2	chr2:234206000-234218600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:234206400-234218800	Weak transcription	Right Atrium	heart

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