Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:122686608-122686837	GM12878	blood:	n/a	n/a
2	SPI1	chr8:122686611-122686821	GM12891	blood:	n/a	n/a
3	SPI1	chr8:122686526-122686893	HL-60	blood:	n/a	n/a
4	SPI1	chr8:122686488-122687017	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000248478	TF binding region

rSNPs within LD-proxies of this variant (count:18)

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	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831446	chr8:122535039-122711959	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1848372	chr8:122653247-122716049	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:122680200-122686800	Weak transcription	Esophagus	oesophagus
2	chr8:122682600-122687000	Enhancers	Fetal Lung	lung
3	chr8:122683600-122691800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:122684800-122686800	Enhancers	Primary T cells from cord blood	blood
5	chr8:122684800-122687000	Enhancers	NH-A	brain
6	chr8:122684800-122687400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:122684800-122687800	Enhancers	HMEC	breast
8	chr8:122684800-122688000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:122685000-122686800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:122685000-122686800	Enhancers	Hela-S3	cervix
11	chr8:122685200-122687000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:122685200-122687400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:122685200-122688000	Enhancers	NHEK	skin
14	chr8:122685600-122687000	Enhancers	Osteobl	bone
15	chr8:122685800-122687400	Enhancers	NHLF	lung
16	chr8:122686200-122687000	Enhancers	NHDF-Ad	bronchial
17	chr8:122686200-122689600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:122686400-122687000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:122686400-122687000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:122686400-122691600	Weak transcription	HSMM	muscle

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