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:27)

rs_ID	r²[population]
rs1234348	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1234351	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs1234352	0.86[ASN][1000 genomes]
rs1236840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1623536	0.89[ASN][1000 genomes]
rs1796502	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs2079530	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2097672	0.90[ASN][1000 genomes]
rs2188547	0.87[ASN][1000 genomes]
rs2860402	0.90[ASN][1000 genomes]
rs28844	0.86[ASN][1000 genomes]
rs2905278	0.90[ASN][1000 genomes]
rs2905280	0.89[CHB][hapmap]
rs2952678	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2952687	0.94[CHB][hapmap]
rs2952688	0.94[CHB][hapmap]
rs3095054	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3111433	0.85[AFR][1000 genomes]
rs3111438	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3111448	0.81[EUR][1000 genomes]
rs3111459	0.88[EUR][1000 genomes]
rs3128399	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3128413	0.87[EUR][1000 genomes]
rs3128414	0.88[EUR][1000 genomes]
rs3128415	0.86[EUR][1000 genomes]
rs4473967	0.86[ASN][1000 genomes]
rs4518580	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[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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