Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168707764..168709493-chr1:168709656..168711665,2	MCF-7	breast:
2	chr1:168708314..168711206-chr1:169073046..169075769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237707	Chromatin interaction
ENSG00000143153	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10919012	1.00[EUR][1000 genomes]
rs12058057	1.00[EUR][1000 genomes]
rs12058379	1.00[EUR][1000 genomes]
rs12060178	1.00[EUR][1000 genomes]
rs12061744	1.00[EUR][1000 genomes]
rs12063868	1.00[EUR][1000 genomes]
rs12064456	1.00[EUR][1000 genomes]
rs12072744	1.00[EUR][1000 genomes]
rs12078028	1.00[EUR][1000 genomes]
rs12079471	1.00[EUR][1000 genomes]
rs12082826	1.00[EUR][1000 genomes]
rs2064472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2206299	1.00[EUR][1000 genomes]
rs56930710	1.00[EUR][1000 genomes]
rs57257422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58149156	1.00[EUR][1000 genomes]
rs59796296	1.00[EUR][1000 genomes]
rs60014051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60151518	1.00[EUR][1000 genomes]
rs60306829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60993038	1.00[EUR][1000 genomes]
rs61365006	1.00[EUR][1000 genomes]
rs73032097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034238	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040271	1.00[EUR][1000 genomes]
rs73042062	1.00[EUR][1000 genomes]
rs7549645	1.00[EUR][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	chr1:168701000-168710800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:168701800-168720400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:168707600-168708800	Weak transcription	HepG2	liver
4	chr1:168707600-168712400	Weak transcription	Gastric	stomach
5	chr1:168708000-168713600	Weak transcription	Right Ventricle	heart
6	chr1:168708200-168711000	Weak transcription	Fetal Heart	heart

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