Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:53812573..53815042-chr5:54160550..54163084,2	K562	blood:
2	chr5:54158673..54160817-chr5:54181128..54182793,2	K562	blood:

Variant related genes	Relation type
ENSG00000178996	Chromatin interaction

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

rs_ID	r²[population]
rs10044930	0.81[ASN][1000 genomes]
rs1965716	0.92[ASN][1000 genomes]
rs1988528	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1991498	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017318	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017540	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2407758	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2897758	0.87[ASN][1000 genomes]
rs4074332	0.81[ASN][1000 genomes]
rs4315891	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4373237	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4407587	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4446420	0.88[ASN][1000 genomes]
rs4865586	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4865587	0.88[ASN][1000 genomes]
rs4865883	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6860824	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs734097	0.88[ASN][1000 genomes]
rs7708368	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs976645	0.86[ASN][1000 genomes]
rs981978	0.82[EUR][1000 genomes];0.85[ASN][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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv598179	chr5:54156269-54192823	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54155800-54163000	Weak transcription	Aorta	Aorta
2	chr5:54158200-54163000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:54158200-54163000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:54158200-54163000	Weak transcription	Ovary	ovary
5	chr5:54158200-54166600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:54158400-54163000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:54158400-54163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:54158400-54163000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:54158800-54163000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:54159200-54162200	Weak transcription	NHLF	lung

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