Variant report

Variant	esv3483169
Chromosome Location	chr9:102042886-102044186
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	RFX5	chr9:102043866-102044185	K562	blood:	n/a	chr9:102044044-102044059
2	RFX5	chr9:102043969-102044214	HepG2	liver:	n/a	chr9:102044044-102044059
3	RFX5	chr9:102043160-102043232	K562	blood:	n/a	n/a

Variant related genes	Relation type
RN7SKP225	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537682984	chr9:102043160-102043161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557508421	chr9:102043164-102043165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372592585	chr9:102043171-102043172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540335247	chr9:102043181-102043182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577378205	chr9:102043949-102043950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553667797	chr9:102043995-102043996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370150954	chr9:102044003-102044004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534304256	chr9:102044046-102044047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs701371	chr9:102044054-102044055	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs76615787	chr9:102044064-102044065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs80028577	chr9:102044069-102044070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs562851507	chr9:102044123-102044124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs701370	chr9:102044133-102044134	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567073854	chr9:102044158-102044159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182153824	chr9:102044163-102044164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:0 , 50 per page) page:

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

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