Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59417943..59419729-chr8:59466208..59468213,2	K562	blood:
2	chr8:59412171..59413812-chr8:59417308..59420098,2	K562	blood:

Variant related genes	Relation type
ENSG00000167910	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10104568	0.95[EUR][1000 genomes]
rs1023649	0.96[EUR][1000 genomes]
rs1023650	0.96[EUR][1000 genomes]
rs1023651	0.96[EUR][1000 genomes]
rs1023652	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125226	0.96[EUR][1000 genomes]
rs12541539	0.95[EUR][1000 genomes]
rs12543344	0.95[EUR][1000 genomes]
rs13251096	0.96[EUR][1000 genomes]
rs1427162	0.95[EUR][1000 genomes]
rs1582824	0.92[EUR][1000 genomes]
rs1834733	0.95[EUR][1000 genomes]
rs3903445	0.96[EUR][1000 genomes]
rs4573256	0.96[EUR][1000 genomes]
rs4737501	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738690	0.95[EUR][1000 genomes]
rs4738691	0.94[EUR][1000 genomes]
rs6984439	0.95[EUR][1000 genomes]
rs7005296	0.93[EUR][1000 genomes]
rs7016868	0.94[EUR][1000 genomes]
rs7833904	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr8:59416200-59419000	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:59417800-59419400	Weak transcription	Fetal Muscle Leg	muscle

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