Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:94908408..94910707-chr8:94917675..94919860,2	MCF-7	breast:
2	chr8:94911561..94913107-chr8:94917801..94919335,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs28758779	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3115898	0.83[EUR][1000 genomes]
rs3115904	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3115905	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3115906	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3115907	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3115908	0.83[EUR][1000 genomes]
rs3115909	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3115910	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3115912	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3133978	0.83[EUR][1000 genomes]
rs3133979	0.83[EUR][1000 genomes]
rs3133980	0.83[EUR][1000 genomes]
rs3133983	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3133984	0.83[EUR][1000 genomes]
rs34468383	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58328810	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58550934	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59390113	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62525235	0.87[EUR][1000 genomes]
rs62525237	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62525238	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62525240	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62525241	0.83[EUR][1000 genomes]
rs723039	0.80[AMR][1000 genomes];0.83[EUR][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	nsv1017969	chr8:94029461-94930730	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94914600-94928200	Weak transcription	Right Ventricle	heart
2	chr8:94915600-94919200	Enhancers	NHEK	skin
3	chr8:94916000-94919600	Enhancers	Primary B cells from cord blood	blood
4	chr8:94916200-94919200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:94916200-94919400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:94916200-94919600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:94916600-94928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:94917800-94923000	Weak transcription	HSMMtube	muscle
9	chr8:94918000-94919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:94918000-94919200	Weak transcription	Left Ventricle	heart
11	chr8:94918600-94919800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr8:94918800-94919200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:94918800-94919200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:94918800-94919600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:94918800-94919800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:94918800-94921600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:94919000-94919400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:94919000-94920000	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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