Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:154043680..154046617-chr5:154048773..154050400,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10039709	0.85[CHB][hapmap]
rs10875591	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11167697	0.82[ASN][1000 genomes]
rs11167698	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12515092	0.93[ASN][1000 genomes]
rs12652072	1.00[ASW][hapmap];0.82[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1811291	0.88[ASN][1000 genomes]
rs1972616	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2396995	0.91[ASN][1000 genomes]
rs28794278	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4958382	0.83[CHB][hapmap]
rs4958753	0.86[ASN][1000 genomes]
rs4958758	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4958759	0.89[CHB][hapmap]
rs4958761	0.89[CHB][hapmap]
rs4958765	0.85[CHB][hapmap]
rs59189695	0.86[ASN][1000 genomes]
rs6580099	0.88[ASN][1000 genomes]
rs6868098	0.80[CHB][hapmap]
rs72797553	0.87[ASN][1000 genomes]
rs7445576	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs749777	0.85[CHB][hapmap]
rs918365	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9324791	0.94[CHB][hapmap]
rs9324792	0.85[CHB][hapmap]
rs965235	0.84[ASW][hapmap];0.83[CHB][hapmap]

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	esv3401644	chr5:153898681-154058368	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv462491	chr5:154045280-154066205	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv600090	chr5:154045280-154066205	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154042800-154061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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