Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44486769..44491037-chr19:44505585..44508395,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266921	Chromatin interaction
ENSG00000159882	Chromatin interaction

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

rs_ID	r²[population]
rs364378	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs364693	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs365769	0.87[AMR][1000 genomes]
rs366111	0.85[YRI][hapmap]
rs367241	0.87[AMR][1000 genomes]
rs374421	0.87[AMR][1000 genomes]
rs376769	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs379722	0.87[AMR][1000 genomes]
rs384432	0.87[AMR][1000 genomes]
rs393403	0.87[AMR][1000 genomes]
rs393473	0.87[AMR][1000 genomes]
rs424364	0.87[AMR][1000 genomes]
rs435590	0.83[YRI][hapmap]
rs441225	0.87[AMR][1000 genomes]
rs443074	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs446072	0.87[AMR][1000 genomes]
rs447175	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs452143	0.87[AMR][1000 genomes]
rs453611	0.87[AMR][1000 genomes]
rs453640	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs461374	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs465860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8101844	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS 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 target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
2	chr19:44474800-44487600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:44482200-44487800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:44482600-44487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:44484400-44487800	Weak transcription	Brain Angular Gyrus	brain
6	chr19:44485200-44487600	Weak transcription	Pancreas	Pancrea
7	chr19:44485200-44488200	Weak transcription	Aorta	Aorta

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