Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:45670301..45673769-chr6:45674281..45677380,3	K562	blood:
2	chr6:45671026..45673654-chr6:45673720..45675383,2	MCF-7	breast:
3	chr6:45670408..45672045-chr6:45672910..45674468,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1889595	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125920	0.81[EUR][1000 genomes]
rs56383386	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57847751	0.90[EUR][1000 genomes]
rs58033063	0.87[EUR][1000 genomes]
rs60499694	0.87[EUR][1000 genomes]
rs60653179	0.84[EUR][1000 genomes]
rs61046945	0.87[EUR][1000 genomes]
rs61433014	0.87[EUR][1000 genomes]
rs61735894	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735906	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932213	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73446524	0.84[EUR][1000 genomes]
rs73735415	0.84[EUR][1000 genomes]
rs73735416	0.84[EUR][1000 genomes]
rs7755911	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976319	0.84[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45664200-45672400	Enhancers	Hela-S3	cervix
2	chr6:45666000-45671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:45666200-45672000	Weak transcription	HSMM	muscle
4	chr6:45667400-45671800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:45668000-45672200	Weak transcription	HSMMtube	muscle
6	chr6:45668000-45678000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:45669400-45672400	Enhancers	NHDF-Ad	bronchial
8	chr6:45669600-45672400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:45670000-45671400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:45670000-45672400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:45670000-45672400	Enhancers	NHEK	skin
12	chr6:45670000-45672600	Enhancers	HMEC	breast
13	chr6:45670200-45672400	Enhancers	NH-A	brain
14	chr6:45670600-45671600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:45670600-45671600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:45670600-45672600	Enhancers	Osteobl	bone
17	chr6:45670800-45672200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:45671000-45678000	Weak transcription	NHLF	lung
19	chr6:45671200-45678000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:45671400-45672200	Weak transcription	Muscle Satellite Cultured Cells	--

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