Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51682229..51684282-chr19:51788485..51790191,2	K562	blood:
2	chr19:51681663..51683598-chr19:51689592..51691872,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10404545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407410	0.84[AMR][1000 genomes]
rs10419749	0.84[AMR][1000 genomes]
rs10421703	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10423943	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1878045	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1878046	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28629968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28662217	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34234198	1.00[EUR][1000 genomes]
rs3959246	0.87[AFR][1000 genomes]
rs57285255	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59941188	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60865290	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61437908	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7252160	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252722	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252750	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254514	0.89[AFR][1000 genomes]
rs7255167	0.84[AMR][1000 genomes]
rs7255602	0.84[AMR][1000 genomes]
rs73610293	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73612702	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73932855	0.89[EUR][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 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	chr19:51677000-51684800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:51677400-51684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:51681200-51683600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:51681800-51684200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:51682000-51684800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:51683200-51685000	Weak transcription	Primary hematopoietic stem cells	blood

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