Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168708859..168713123-chr1:169074187..169076127,3	MCF-7	breast:
2	chr1:168707764..168709493-chr1:168709656..168711665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

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

rs_ID	r²[population]
rs11577775	1.00[ASN][1000 genomes]
rs12065661	0.88[ASN][1000 genomes]
rs12401569	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12401592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403860	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12410077	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12411200	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35915405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168358	1.00[EUR][1000 genomes]
rs57187559	1.00[EUR][1000 genomes]
rs58987681	1.00[EUR][1000 genomes]
rs60429525	1.00[EUR][1000 genomes]
rs73032003	1.00[EUR][1000 genomes]
rs73042054	1.00[EUR][1000 genomes]
rs73042074	1.00[EUR][1000 genomes]
rs74121379	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74121380	1.00[EUR][1000 genomes]
rs74122718	1.00[EUR][1000 genomes]
rs74122750	1.00[EUR][1000 genomes]
rs74122754	1.00[EUR][1000 genomes]
rs74122773	1.00[EUR][1000 genomes]
rs999310	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:168701800-168720400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:168707600-168712400	Weak transcription	Gastric	stomach
3	chr1:168708000-168713600	Weak transcription	Right Ventricle	heart
4	chr1:168709800-168712000	Weak transcription	HepG2	liver
5	chr1:168711000-168713000	Enhancers	Fetal Heart	heart
6	chr1:168711200-168724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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