Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90540304..90543080-chr5:90544867..90547195,2	MCF-7	breast:
2	chr5:90527291..90547553-chr5:90674171..90681359,33	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10059932	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072875	0.92[EUR][1000 genomes]
rs10473941	1.00[EUR][1000 genomes]
rs10473942	1.00[EUR][1000 genomes]
rs10474341	0.91[AFR][1000 genomes]
rs10474344	0.92[EUR][1000 genomes]
rs10474345	0.92[EUR][1000 genomes]
rs10474348	1.00[ASN][1000 genomes]
rs12515116	0.91[AFR][1000 genomes]
rs13362365	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379688	0.97[EUR][1000 genomes]
rs28490868	1.00[EUR][1000 genomes]
rs2973471	0.83[EUR][1000 genomes]
rs4392660	0.83[EUR][1000 genomes]
rs55818598	0.97[EUR][1000 genomes]
rs55989779	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082303	0.91[EUR][1000 genomes]
rs56320224	0.89[EUR][1000 genomes]
rs56410910	0.97[EUR][1000 genomes]
rs57891485	1.00[EUR][1000 genomes]
rs58520625	0.97[EUR][1000 genomes]
rs59967608	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6877491	0.89[EUR][1000 genomes]
rs72786312	0.91[AFR][1000 genomes]
rs73773329	0.89[EUR][1000 genomes]
rs73773330	0.91[EUR][1000 genomes]
rs73773334	0.97[EUR][1000 genomes]
rs73773337	0.95[AFR][1000 genomes];1.00[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90525000-90542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:90541400-90543400	Weak transcription	Fetal Heart	heart

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