Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:69611388..69613442-chr8:69760561..69763282,2	MCF-7	breast:
2	chr8:69611328..69613361-chr8:69644570..69646290,3	MCF-7	breast:
3	chr8:69609836..69613809-chr8:69614366..69618965,6	MCF-7	breast:
4	chr8:69592607..69595138-chr8:69612214..69613989,2	MCF-7	breast:
5	chr8:69603997..69607183-chr8:69609527..69612798,4	MCF-7	breast:
6	chr8:69609765..69614722-chr8:69616148..69622047,8	MCF-7	breast:
7	chr8:69607693..69609742-chr8:69610232..69613117,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239184	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11984995	0.92[EUR][1000 genomes]
rs11992298	1.00[EUR][1000 genomes]
rs11997399	0.87[EUR][1000 genomes]
rs16934792	0.80[EUR][1000 genomes]
rs16934878	0.87[EUR][1000 genomes]
rs16934930	1.00[EUR][1000 genomes]
rs16934945	0.82[EUR][1000 genomes]
rs55691147	1.00[EUR][1000 genomes]
rs55731817	1.00[EUR][1000 genomes]
rs55820094	1.00[EUR][1000 genomes]
rs55851115	1.00[EUR][1000 genomes]
rs56194107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56405329	1.00[EUR][1000 genomes]
rs56706627	0.91[EUR][1000 genomes]
rs57624575	0.96[EUR][1000 genomes]
rs58619671	0.85[EUR][1000 genomes]
rs59276657	0.91[EUR][1000 genomes]
rs60577322	0.87[EUR][1000 genomes]
rs60704896	1.00[EUR][1000 genomes]
rs60946548	1.00[EUR][1000 genomes]
rs6651316	0.88[EUR][1000 genomes]
rs6986385	1.00[EUR][1000 genomes]
rs6987972	0.96[EUR][1000 genomes]
rs6992870	1.00[EUR][1000 genomes]
rs7012051	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013783	1.00[EUR][1000 genomes]
rs73683589	1.00[EUR][1000 genomes]
rs73683594	1.00[EUR][1000 genomes]
rs73683595	1.00[EUR][1000 genomes]
rs73683703	1.00[EUR][1000 genomes]
rs7818845	0.96[EUR][1000 genomes]
rs984415	0.92[EUR][1000 genomes]
rs984878	0.87[EUR][1000 genomes]
rs9987198	0.90[AMR][1000 genomes];1.00[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	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69609800-69612800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:69609800-69613000	Enhancers	Colon Smooth Muscle	Colon
3	chr8:69610000-69613000	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:69610600-69613000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr8:69611200-69613000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:69611800-69622400	Weak transcription	Aorta	Aorta
7	chr8:69612200-69615600	Weak transcription	HMEC	breast
8	chr8:69612400-69613000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:69612400-69615600	Weak transcription	Hela-S3	cervix

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