Variant report

Variant	rs180770647
Chromosome Location	chr8:20093546-20093547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20085731..20091365-chr8:20092849..20097507,5	K562	blood:
2	chr8:20086233..20088628-chr8:20091921..20094349,2	K562	blood:

Variant related genes	Relation type
ENSG00000222267	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3440486	chr8:20092872-20097870	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20079400-20093800	Weak transcription	Right Ventricle	heart
2	chr8:20083800-20095600	Weak transcription	Pancreas	Pancrea
3	chr8:20089800-20093600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:20089800-20096400	Weak transcription	Right Atrium	heart
5	chr8:20090000-20103800	Weak transcription	HSMM	muscle
6	chr8:20090200-20102800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:20091000-20094800	Enhancers	Fetal Thymus	thymus
8	chr8:20091200-20103800	Weak transcription	NHLF	lung
9	chr8:20091400-20093800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:20091400-20094800	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr8:20091600-20093800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:20091800-20094400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr8:20092000-20093600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr8:20092000-20097600	Enhancers	Fetal Brain Male	brain
15	chr8:20092600-20095800	Weak transcription	HSMMtube	muscle
16	chr8:20092800-20094000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr8:20092800-20094800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr8:20093000-20093600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr8:20093000-20093800	Weak transcription	Thymus	Thymus
20	chr8:20093000-20094200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr8:20093000-20094200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:20093000-20094200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr8:20093000-20094200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:20093200-20093600	Weak transcription	Dnd41	blood
25	chr8:20093200-20094000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:20093200-20094000	Weak transcription	Fetal Brain Female	brain
27	chr8:20093200-20094200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:20093200-20094200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:20093200-20095000	Weak transcription	Fetal Kidney	kidney
30	chr8:20093400-20093600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:20093400-20093800	Enhancers	Fetal Heart	heart
32	chr8:20093400-20093800	Flanking Active TSS	Spleen	Spleen
33	chr8:20093400-20094000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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