Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40805017..40807937-chr5:40809929..40811928,3	K562	blood:
2	chr5:40803716..40807696-chr5:40826215..40829999,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1001684	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1002423	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1002424	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10043245	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10065570	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10074991	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1122655	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956019	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11956047	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11957736	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13361707	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28544962	0.86[AMR][1000 genomes]
rs3763074	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3805487	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4957352	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58692207	0.86[AMR][1000 genomes]
rs58751240	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59133000	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59338019	0.86[AMR][1000 genomes]
rs6876367	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6899032	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73084490	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7717357	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
4	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40800200-40808200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40800200-40808400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:40800600-40808200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:40804000-40808200	Weak transcription	K562	blood

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