Variant report

Variant	nsv969449
Chromosome Location	chr6:133471085-133478176
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	CEBPB	chr6:133477881-133478176	IMR90	lung:	n/a	n/a
2	CEBPB	chr6:133477911-133478150	A549	lung:	n/a	n/a
3	CTCF	chr6:133473391-133473432	GM20000	blood:	n/a	n/a
4	CTCF	chr6:133475289-133475322	GM10248	blood:	n/a	n/a
5	FOXA1	chr6:133475847-133476233	HepG2	liver:	n/a	n/a
6	FOXA2	chr6:133475805-133476146	A549	lung:	n/a	n/a
7	FOXA2	chr6:133475881-133476210	A549	lung:	n/a	n/a
8	JUN	chr6:133477888-133478107	HepG2	liver:	n/a	chr6:133478028-133478041
9	JUND	chr6:133477867-133478164	HepG2	liver:	n/a	n/a
10	KAT2A	chr6:133471829-133471932	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:133471491-133471634	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:133472590-133472712	H1-hESC	embryonic stem cell:	n/a	n/a
13	RXRA	chr6:133472556-133472737	HepG2	liver:	n/a	n/a
14	ZBTB33	chr6:133472502-133472739	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MTCYBP4	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551227302	chr6:133471492-133471493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs147373094	chr6:133471497-133471498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs536407371	chr6:133471500-133471501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553197049	chr6:133471513-133471514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73553682	chr6:133471565-133471566	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113202421	chr6:133471568-133471569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557584475	chr6:133471579-133471580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs73553683	chr6:133471594-133471595	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148682521	chr6:133471595-133471596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs35749128	chr6:133471634-133471635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	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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