Variant report

Variant	rs530478903
Chromosome Location	chr8:20239158-20239159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20232400-20242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:20234200-20239400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:20234800-20239400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:20236600-20245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:20236800-20239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:20236800-20239400	Weak transcription	NH-A	brain
7	chr8:20236800-20239800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:20237000-20239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:20237000-20240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:20238000-20239600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:20238400-20239400	Weak transcription	HSMM	muscle
12	chr8:20238400-20239400	Weak transcription	NHDF-Ad	bronchial
13	chr8:20238600-20239800	Weak transcription	HSMMtube	muscle
14	chr8:20238800-20239200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:20238800-20239600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:20239000-20239600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:20239000-20239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:20239000-20240000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:20239000-20240200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:20239000-20240200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:20239000-20241000	Enhancers	HMEC	breast
22	chr8:20239000-20241400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:20239000-20241600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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