Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:69961073..69963506-chr1:69987765..69990141,2	K562	blood:

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

rs_ID	r²[population]
rs10749793	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10749794	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10789297	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10889838	0.81[ASN][1000 genomes]
rs11209488	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11209490	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12027307	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12044433	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12063209	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12092204	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12116687	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12119817	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12144363	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12567881	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12750500	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1418013	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1418016	0.81[ASN][1000 genomes]
rs1539184	0.81[ASN][1000 genomes]
rs1592101	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35264445	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4589058	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4650295	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71575482	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7531427	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7537519	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539145	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:69988400-69990000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:69988400-69990000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:69988400-69990000	Enhancers	NHLF	lung
4	chr1:69988400-69990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:69988400-69990200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:69988400-69990200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:69988400-69990200	Enhancers	HMEC	breast
8	chr1:69988400-69990200	Enhancers	NH-A	brain
9	chr1:69988400-69990200	Enhancers	NHEK	skin
10	chr1:69988600-69989800	Enhancers	Osteobl	bone
11	chr1:69988600-69990000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:69988600-69990200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:69988600-69990400	Enhancers	NHDF-Ad	bronchial
14	chr1:69989000-69989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:69989000-69989400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:69989000-69993800	Weak transcription	K562	blood

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