Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116786894..116789181-chr5:116791351..116793871,2	MCF-7	breast:
2	chr5:116790139..116793042-chr5:116793265..116796225,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248663	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12652595	0.98[ASN][1000 genomes]
rs12655647	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12656922	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12657924	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17141696	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17141732	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17141753	0.87[AMR][1000 genomes]
rs17141756	0.81[AMR][1000 genomes]
rs17141763	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17141806	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17141815	1.00[ASN][1000 genomes]
rs2560518	0.86[CHB][hapmap]
rs2624569	0.85[CHB][hapmap]
rs56325279	1.00[ASN][1000 genomes]
rs56871737	1.00[ASN][1000 genomes]
rs60538843	1.00[AFR][1000 genomes]
rs62378227	0.81[AMR][1000 genomes]
rs62378228	0.81[AMR][1000 genomes]
rs62378233	0.82[EUR][1000 genomes]
rs62378248	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62378259	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62380064	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62380096	1.00[ASN][1000 genomes]
rs62380101	0.84[ASN][1000 genomes]
rs62380128	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62380129	0.93[AMR][1000 genomes]
rs7726548	1.00[CHB][hapmap]

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	nsv830457	chr5:116724777-116875060	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv882756	chr5:116783660-116905052	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:116791000-116797800	Weak transcription	Brain Substantia Nigra	brain
2	chr5:116791600-116797000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:116791800-116799400	Weak transcription	Rectal Smooth Muscle	rectum

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