Variant report

Variant	rs552565822
Chromosome Location	chr2:39892189-39892190
allele	C/T
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	CTCF	chr2:39892160-39892310	HRPEpiC	eye:	n/a	n/a
2	RAD21	chr2:39892143-39892589	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr2:39892127-39894357	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr2:39892043-39892640	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:39892180-39892330	HepG2	liver:	n/a	n/a
6	E2F6	chr2:39891897-39892587	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr2:39892088-39892803	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr2:39892004-39892716	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TMEM178A	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3411574	chr2:39891873-39894421	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39885600-39893600	Weak transcription	Fetal Brain Male	brain
2	chr2:39888400-39892400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:39888600-39892400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:39889800-39892200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:39890000-39892600	Weak transcription	HSMMtube	muscle
6	chr2:39890400-39892400	Enhancers	Fetal Heart	heart
7	chr2:39891200-39894000	Active TSS	Fetal Brain Female	brain
8	chr2:39891600-39892600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
9	chr2:39891800-39892200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:39891800-39892200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:39891800-39892800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr2:39891800-39893000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:39891800-39894600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:39892000-39892200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:39892000-39892200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:39892000-39892200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr2:39892000-39892200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr2:39892000-39892200	Bivalent Enhancer	HepG2	liver
19	chr2:39892000-39892400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr2:39892000-39892400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:39892000-39893800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:39892000-39893800	Active TSS	HSMM	muscle
23	chr2:39892000-39894000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:39892000-39894200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:39892000-39894400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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