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:23)

rs_ID	r²[population]
rs10076405	0.83[ASN][1000 genomes]
rs11241809	0.80[ASN][1000 genomes]
rs13187198	0.83[ASN][1000 genomes]
rs1388215	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1400870	0.91[ASN][1000 genomes]
rs1400872	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1491066	0.85[ASN][1000 genomes]
rs1826262	0.83[ASN][1000 genomes]
rs1826263	0.82[ASN][1000 genomes]
rs2046908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2056216	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2130845	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4407631	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425501	0.84[ASN][1000 genomes]
rs4466164	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4621558	0.82[ASN][1000 genomes]
rs6862357	0.93[ASN][1000 genomes]
rs6875072	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6876182	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6895537	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs724863	0.93[ASN][1000 genomes]
rs769334	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs968759	0.95[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124813000-124816600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:124813200-124816400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:124813400-124819400	Weak transcription	Stomach Mucosa	stomach
4	chr5:124813600-124815800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:124813600-124819000	Weak transcription	HSMMtube	muscle
6	chr5:124813600-124819200	Weak transcription	HMEC	breast
7	chr5:124813600-124819400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:124813600-124819400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:124813600-124819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:124814000-124819200	Weak transcription	HUVEC	blood vessel
11	chr5:124814600-124819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:124814600-124819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:124814600-124819400	Weak transcription	NHEK	skin
14	chr5:124814600-124819800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:124814800-124819600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:124815000-124819800	Weak transcription	Rectal Mucosa Donor 31	rectum

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