Variant report

No.	Distal block	Cell Line	Cell type
1	chr19:40561902..40564194-chr19:40564354..40569347,4	K562	blood:
2	chr19:40554959..40556477-chr19:40565054..40566887,2	K562	blood:
3	chr19:40561268..40563176-chr19:40564032..40566450,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128000	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10421180	1.00[EUR][1000 genomes]
rs11882408	1.00[EUR][1000 genomes]
rs1972545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34873737	1.00[EUR][1000 genomes]
rs58341807	1.00[AMR][1000 genomes]
rs58675277	1.00[AMR][1000 genomes]
rs61140926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61149986	1.00[EUR][1000 genomes]
rs61208274	1.00[AMR][1000 genomes]
rs7247255	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7250697	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7252478	1.00[EUR][1000 genomes]
rs7256297	1.00[AMR][1000 genomes]
rs73543984	1.00[AMR][1000 genomes]
rs73545918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553624	1.00[AMR][1000 genomes]
rs73553657	1.00[AMR][1000 genomes]
rs73555546	1.00[AMR][1000 genomes]
rs73555594	1.00[AMR][1000 genomes]
rs8107448	1.00[AMR][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	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40562600-40579200	Weak transcription	Left Ventricle	heart
2	chr19:40562600-40579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:40563000-40565400	Weak transcription	Fetal Heart	heart
4	chr19:40563000-40565600	Weak transcription	Fetal Brain Male	brain
5	chr19:40563000-40565600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:40563200-40565600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:40563400-40566200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:40563600-40565600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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