Variant report

Variant	rs549379625
Chromosome Location	chr8:20093863-20093864
allele	A/G
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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20083800-20095600	Weak transcription	Pancreas	Pancrea
2	chr8:20089800-20096400	Weak transcription	Right Atrium	heart
3	chr8:20090000-20103800	Weak transcription	HSMM	muscle
4	chr8:20090200-20102800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:20091000-20094800	Enhancers	Fetal Thymus	thymus
6	chr8:20091200-20103800	Weak transcription	NHLF	lung
7	chr8:20091400-20094800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr8:20091800-20094400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr8:20092000-20097600	Enhancers	Fetal Brain Male	brain
10	chr8:20092600-20095800	Weak transcription	HSMMtube	muscle
11	chr8:20092800-20094000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr8:20092800-20094800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr8:20093000-20094200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr8:20093000-20094200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:20093000-20094200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr8:20093000-20094200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:20093200-20094000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:20093200-20094000	Weak transcription	Fetal Brain Female	brain
19	chr8:20093200-20094200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:20093200-20094200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:20093200-20095000	Weak transcription	Fetal Kidney	kidney
22	chr8:20093400-20094000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:20093600-20094200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:20093600-20094200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:20093600-20094200	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr8:20093600-20094800	Enhancers	Dnd41	blood
27	chr8:20093800-20094000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr8:20093800-20094000	Bivalent Enhancer	Placenta	Placenta
29	chr8:20093800-20094000	Bivalent Enhancer	Fetal Stomach	stomach
30	chr8:20093800-20094000	Enhancers	Left Ventricle	heart
31	chr8:20093800-20094000	Enhancers	Thymus	Thymus
32	chr8:20093800-20094200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr8:20093800-20094200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr8:20093800-20094200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:20093800-20094200	Enhancers	Spleen	Spleen
36	chr8:20093800-20094400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:20093800-20094400	Enhancers	Right Ventricle	heart
38	chr8:20093800-20095000	Weak transcription	Fetal Heart	heart
39	chr8:20093800-20103000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:20093800-20103200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:20093800-20104200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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