Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57729455..57731419-chr4:57776863..57778479,2	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1002285	0.83[EUR][1000 genomes]
rs1708762	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1708764	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1708788	0.80[AMR][1000 genomes]
rs1713985	0.83[EUR][1000 genomes]
rs1713992	0.80[AMR][1000 genomes]
rs1718828	0.88[AMR][1000 genomes]
rs2137767	0.84[AFR][1000 genomes]
rs2137768	0.81[AFR][1000 genomes]
rs2137769	0.84[AFR][1000 genomes]
rs4280804	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4865163	0.84[EUR][1000 genomes]
rs4865164	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62310289	0.80[AMR][1000 genomes]
rs781546	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781547	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781550	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs796680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs796681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802920	0.88[AMR][1000 genomes];0.86[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr4:57727800-57737600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57727800-57740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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