Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124812779..124814356-chr5:124815356..124817386,2	K562	blood:

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

rs_ID	r²[population]
rs10076405	0.82[ASN][1000 genomes]
rs13187198	0.80[ASN][1000 genomes]
rs1388215	0.90[ASN][1000 genomes]
rs1400870	0.87[ASN][1000 genomes]
rs1400872	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1491066	0.81[ASN][1000 genomes]
rs1826262	0.83[ASN][1000 genomes]
rs1826263	0.84[ASN][1000 genomes]
rs2046908	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2130845	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4407631	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4425501	0.82[ASN][1000 genomes]
rs4466164	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4621558	0.80[ASN][1000 genomes]
rs6595616	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6862357	0.92[ASN][1000 genomes]
rs6875072	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6876182	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6895537	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs724863	0.90[ASN][1000 genomes]
rs769334	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs968759	0.91[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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124811400-124813600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:124811400-124814800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr5:124812400-124813600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:124812400-124813600	Enhancers	HMEC	breast
5	chr5:124812400-124813600	Enhancers	NHLF	lung
6	chr5:124812400-124814600	Enhancers	NHEK	skin
7	chr5:124812600-124813200	Enhancers	Osteobl	bone
8	chr5:124812600-124813400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:124812600-124813800	Enhancers	NH-A	brain
10	chr5:124812600-124814000	Enhancers	HUVEC	blood vessel
11	chr5:124812600-124814600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:124812600-124814600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:124812800-124813600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:124812800-124813600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:124812800-124813600	Enhancers	HSMMtube	muscle
16	chr5:124813000-124813200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:124813000-124813400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:124813000-124813400	Enhancers	Stomach Mucosa	stomach
19	chr5:124813000-124816600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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