Variant report

Variant	rs539542318
Chromosome Location	chr20:24449588-24449589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr20:24449529-24452302	H1-hESC	embryonic stem cell:	n/a	chr20:24450622-24450635 chr20:24449957-24449970
2	SP1	chr20:24449560-24449989	H1-hESC	embryonic stem cell:	n/a	chr20:24449799-24449811 chr20:24449801-24449810 chr20:24449800-24449809 chr20:24449799-24449811 chr20:24449800-24449810 chr20:24449941-24449955 chr20:24449799-24449810 chr20:24449800-24449814
3	TEAD4	chr20:24449515-24450031	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr20:24449550-24450038	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr20:24449519-24449987	H1-hESC	embryonic stem cell:	n/a	chr20:24449962-24449976 chr20:24449710-24449724 chr20:24449801-24449810
6	POLR2A	chr20:24449547-24450560	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr20:24449494-24449951	H1-hESC	embryonic stem cell:	n/a	chr20:24449800-24449810
8	KAP1	chr20:24449559-24450130	HEK293	kidney:	n/a	n/a
9	TEAD4	chr20:24449577-24449996	ECC-1	luminal epithelium:	n/a	n/a
10	FOSL1	chr20:24449506-24449961	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOSL1	chr20:24449505-24449961	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr20:24449178-24450293	H1-hESC	embryonic stem cell:	n/a	chr20:24450087-24450105 chr20:24449963-24449973 chr20:24449299-24449318
13	RAD21	chr20:24449481-24450052	H1-hESC	embryonic stem cell:	n/a	chr20:24449975-24449989 chr20:24449803-24449813

Variant related genes	Relation type
SYNDIG1	TF binding region

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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv833946	chr20:24320375-24490702	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3400513	chr20:24449177-24451725	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24439800-24449800	Weak transcription	Right Atrium	heart
2	chr20:24446000-24449800	Weak transcription	Aorta	Aorta
3	chr20:24447000-24449600	Weak transcription	Left Ventricle	heart
4	chr20:24447400-24449600	Weak transcription	Brain Substantia Nigra	brain
5	chr20:24448000-24450000	Bivalent Enhancer	Fetal Thymus	thymus
6	chr20:24448600-24449600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:24448600-24449600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:24448800-24449600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr20:24448800-24449600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr20:24449000-24449600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:24449000-24449600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr20:24449000-24449600	Enhancers	Brain Hippocampus Middle	brain
13	chr20:24449000-24449600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr20:24449000-24449800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr20:24449000-24449800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:24449000-24449800	Enhancers	Fetal Heart	heart
17	chr20:24449200-24449600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr20:24449200-24449600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr20:24449200-24449600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr20:24449200-24451200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr20:24449200-24452200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr20:24449400-24449600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:24449400-24449600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr20:24449400-24449600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:24449400-24449600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr20:24449400-24449600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
27	chr20:24449400-24449600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr20:24449400-24449600	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr20:24449400-24449600	Enhancers	Right Ventricle	heart
30	chr20:24449400-24449800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr20:24449400-24449800	Flanking Active TSS	Fetal Brain Female	brain
32	chr20:24449400-24449800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
33	chr20:24449400-24449800	Weak transcription	Gastric	stomach
34	chr20:24449400-24449800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr20:24449400-24450000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr20:24449400-24450000	Enhancers	Fetal Brain Male	brain
37	chr20:24449400-24450000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr20:24449400-24450400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr20:24449400-24451000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr20:24449400-24451000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr20:24449400-24451000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr20:24449400-24451600	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr20:24449400-24452200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr20:24449400-24452200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr20:24449400-24452200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr20:24449400-24452200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr20:24449400-24452200	Active TSS	Brain Angular Gyrus	brain
48	chr20:24449400-24452200	Active TSS	Brain Cingulate Gyrus	brain
49	chr20:24449400-24452400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr20:24449400-24452400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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