Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112090281..112091988-chr7:112219109..112221607,2	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1014362	0.98[ASN][1000 genomes]
rs1234380	0.86[CHB][hapmap]
rs1234381	0.86[CHB][hapmap]
rs2966478	0.86[CHB][hapmap]
rs3095022	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095040	0.82[CEU][hapmap]
rs3095055	0.80[EUR][1000 genomes]
rs3095056	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3111436	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3111439	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3111441	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3128400	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3128401	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3128402	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3128403	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3128404	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3128406	0.81[AMR][1000 genomes]
rs43091	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs43095	0.84[ASN][1000 genomes]
rs43096	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs728462	0.97[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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112213200-112220000	Weak transcription	Right Ventricle	heart
2	chr7:112214000-112221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:112217000-112219400	Weak transcription	Left Ventricle	heart
4	chr7:112218200-112222000	Enhancers	Fetal Heart	heart
5	chr7:112219000-112220800	Weak transcription	HSMMtube	muscle

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