Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58463095..58465569-chr12:58476759..58478479,2	K562	blood:

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

rs_ID	r²[population]
rs1124448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17491039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17491749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17491966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17569631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17576604	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17577748	0.97[EUR][1000 genomes]
rs17578745	0.97[EUR][1000 genomes]
rs1848130	1.00[EUR][1000 genomes]
rs1857942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659638	0.81[AFR][1000 genomes]
rs2659648	0.81[AFR][1000 genomes]
rs2659649	0.81[AFR][1000 genomes]
rs2659663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2720172	0.81[AFR][1000 genomes]
rs2720174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720175	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505105	1.00[EUR][1000 genomes]
rs4760176	0.94[EUR][1000 genomes]
rs73339741	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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	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
3	esv3502230	chr12:58458209-58490226	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3502241	chr12:58458223-58490223	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 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	chr12:58462000-58465600	Weak transcription	Pancreas	Pancrea
2	chr12:58464600-58464800	Enhancers	HSMMtube	muscle
3	chr12:58464600-58465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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