Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147589078..147591564-chr5:147592751..147595184,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10042764	0.83[ASN][1000 genomes]
rs10477364	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1120564	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1124209	0.83[ASN][1000 genomes]
rs1158938	0.83[ASN][1000 genomes]
rs12654024	0.90[ASN][1000 genomes]
rs1368304	0.90[ASN][1000 genomes]
rs1368314	0.83[ASN][1000 genomes]
rs1432697	0.83[ASN][1000 genomes]
rs1583279	0.84[ASN][1000 genomes]
rs1583280	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1583281	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1583282	0.83[ASN][1000 genomes]
rs1583283	0.83[ASN][1000 genomes]
rs2400502	0.83[ASN][1000 genomes]
rs2400503	0.83[ASN][1000 genomes]
rs2915793	0.83[ASN][1000 genomes]
rs2915794	0.83[ASN][1000 genomes]
rs6580537	0.90[ASN][1000 genomes]
rs6580538	0.90[ASN][1000 genomes]
rs7724807	0.83[ASN][1000 genomes]
rs9325089	0.83[ASN][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	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:147588200-147593200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147589600-147594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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