Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58492799..58495914-chr12:58496910..58499926,3	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs265572	1.00[EUR][1000 genomes]
rs265573	1.00[EUR][1000 genomes]
rs265574	0.82[AFR][1000 genomes]
rs265575	1.00[EUR][1000 genomes]
rs265576	0.83[AFR][1000 genomes]
rs265578	0.92[AFR][1000 genomes]
rs265580	1.00[EUR][1000 genomes]
rs265581	0.92[AFR][1000 genomes]
rs265582	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs265583	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs265584	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs265585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs265592	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs265593	1.00[EUR][1000 genomes]
rs265594	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs265595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2659655	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2659656	1.00[EUR][1000 genomes]
rs2733440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2733441	1.00[EUR][1000 genomes]
rs2733447	1.00[EUR][1000 genomes]
rs7132079	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973502	0.82[AFR][1000 genomes]
rs991518	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2830232	chr12:58470456-58498926	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv729	chr12:58490094-58535466	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2760225	chr12:58490832-58514112	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58496800-58499800	Enhancers	Fetal Muscle Leg	muscle
2	chr12:58497000-58497800	Weak transcription	Pancreas	Pancrea
3	chr12:58497200-58498400	Weak transcription	Right Ventricle	heart

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