Variant report

Variant	esv2007580
Chromosome Location	chr9:97254655-97254656
allele	n/a
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	ATF2	chr9:97254373-97254805	GM12878	blood:	n/a	n/a
2	BATF	chr9:97254351-97254686	GM12878	blood:	n/a	chr9:97254488-97254498
3	BATF	chr9:97254388-97254700	GM12878	blood:	n/a	chr9:97254488-97254498
4	BCL11A	chr9:97254340-97254738	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:97254407-97254725	GM12878	blood:	n/a	n/a
6	BCLAF1	chr9:97254424-97254735	GM12878	blood:	n/a	n/a
7	EP300	chr9:97254522-97254731	GM12878	blood:	n/a	chr9:97254599-97254613
8	EP300	chr9:97254487-97254682	GM12878	blood:	n/a	chr9:97254487-97254496 chr9:97254599-97254613
9	PAX5	chr9:97254411-97254878	GM12878	blood:	n/a	n/a
10	PAX5	chr9:97254443-97254705	GM12878	blood:	n/a	n/a
11	PAX5	chr9:97254382-97254693	GM12878	blood:	n/a	n/a
12	POU2F2	chr9:97254370-97254913	GM12891	blood:	n/a	chr9:97254510-97254525
13	POU2F2	chr9:97254364-97254731	GM12878	blood:	n/a	chr9:97254510-97254525
14	RCOR1	chr9:97254528-97254746	GM12878	blood:	n/a	n/a
15	RUNX3	chr9:97254361-97254807	GM12878	blood:	n/a	n/a
16	RUNX3	chr9:97254367-97254730	GM12878	blood:	n/a	n/a
17	SPI1	chr9:97254323-97254843	GM12891	blood:	n/a	n/a
18	SPI1	chr9:97254415-97254771	GM12878	blood:	n/a	n/a
19	SPI1	chr9:97254366-97254733	GM12891	blood:	n/a	n/a
20	SPI1	chr9:97254512-97254656	GM12878	blood:	n/a	n/a
21	SPI1	chr9:97254194-97254861	GM12878	blood:	n/a	n/a
22	ZNF384	chr9:97254428-97254827	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97242816..97244907-chr9:97253508..97257110,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224245	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34618707	chr9:97254655-97254656	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs79805338	chr9:97254656-97254657	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97241800-97262800	Weak transcription	Liver	Liver
2	chr9:97254000-97255400	Enhancers	GM12878-XiMat	blood

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