Variant report

Variant	esv2031466
Chromosome Location	chr9:140780612-140780613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 19 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200808323	chr9:140780612-140780613	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140773200-140795400	Weak transcription	Right Atrium	heart
2	chr9:140777200-140782000	ZNF genes & repeats	Spleen	Spleen
3	chr9:140777600-140787200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:140778600-140787000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:140779200-140780800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:140779200-140785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:140780200-140781000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:140780400-140781000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:140780600-140781600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:140780600-140782400	Genic enhancers	Brain Germinal Matrix	brain
11	chr9:140780600-140783400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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