Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:67017659..67020444-chr8:67021463..67024144,2	K562	blood:
2	chr8:67018137..67023099-chr8:67024551..67027226,4	MCF-7	breast:
3	chr8:67016508..67023104-chr8:67024672..67027865,9	K562	blood:
4	chr8:67018684..67021524-chr8:67022804..67027673,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10096789	0.95[EUR][1000 genomes]
rs10098823	1.00[CEU][hapmap]
rs11779150	1.00[CEU][hapmap]
rs12156080	1.00[CEU][hapmap]
rs13439818	0.90[EUR][1000 genomes]
rs34083382	0.92[EUR][1000 genomes]
rs55640054	1.00[EUR][1000 genomes]
rs55691225	0.95[EUR][1000 genomes]
rs55745275	0.95[EUR][1000 genomes]
rs56163324	1.00[EUR][1000 genomes]
rs56176008	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs57390453	1.00[EUR][1000 genomes]
rs61738600	1.00[EUR][1000 genomes]
rs6472244	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6982394	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6983227	1.00[EUR][1000 genomes]
rs6986947	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990486	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6992031	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6992434	1.00[EUR][1000 genomes]
rs6998258	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7005882	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7006209	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7010547	1.00[EUR][1000 genomes]
rs73236728	0.90[EUR][1000 genomes]
rs749328	0.95[EUR][1000 genomes]
rs7813194	0.95[EUR][1000 genomes]
rs7813201	0.95[EUR][1000 genomes]
rs7838582	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839635	1.00[CEU][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes]
rs7843436	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7845017	1.00[EUR][1000 genomes]
rs959302	0.95[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67017800-67020600	Enhancers	HSMM	muscle
2	chr8:67018600-67024600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:67019000-67020400	Weak transcription	K562	blood
4	chr8:67019600-67024600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:67020200-67023000	Weak transcription	HSMMtube	muscle

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