Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134704101..134707555-chr2:134709028..134712351,4	K562	blood:

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

rs_ID	r²[population]
rs13424416	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829423	1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs16829743	1.00[EUR][1000 genomes]
rs16829808	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56170261	1.00[EUR][1000 genomes]
rs57028673	1.00[EUR][1000 genomes]
rs57898906	1.00[EUR][1000 genomes]
rs59601058	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60573351	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61465743	1.00[EUR][1000 genomes]
rs6745294	1.00[EUR][1000 genomes]
rs6753469	1.00[EUR][1000 genomes]
rs6757963	1.00[EUR][1000 genomes]
rs72999768	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999775	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999782	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999787	1.00[EUR][1000 genomes]
rs72999793	1.00[EUR][1000 genomes]
rs73007661	1.00[EUR][1000 genomes]
rs73957243	1.00[EUR][1000 genomes]
rs7584447	1.00[EUR][1000 genomes]
rs7592843	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134699400-134706400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:134703000-134704400	Enhancers	Fetal Brain Male	brain
3	chr2:134703000-134704400	Enhancers	Fetal Heart	heart
4	chr2:134703400-134709400	Weak transcription	Left Ventricle	heart
5	chr2:134704000-134704200	Enhancers	Right Atrium	heart
6	chr2:134704000-134704400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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