Variant report

Variant	esv3434834
Chromosome Location	chr14:43075052-43077200
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	E2F4	chr14:43074824-43075171	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr14:43076155-43076369	HepG2	liver:	n/a	chr14:43076233-43076246
3	JUND	chr14:43076151-43076406	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:43075016-43075173	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:43076915-43077092	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr14:43076686-43076766	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000258505	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537293280	chr14:43075101-43075102	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs532510812	chr14:43075117-43075118	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140154533	chr14:43075175-43075176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561862679	chr14:43075230-43075231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574651911	chr14:43075245-43075246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555734288	chr14:43075246-43075247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185441198	chr14:43075280-43075281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534652719	chr14:43075302-43075303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552698654	chr14:43075317-43075318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10134208	chr14:43075331-43075332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116396784	chr14:43075389-43075390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148589447	chr14:43076159-43076160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554750245	chr14:43076182-43076183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs547276023	chr14:43076325-43076326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs573167773	chr14:43076339-43076340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371195410	chr14:43076360-43076361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528365579	chr14:43076725-43076726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs142319945	chr14:43076733-43076734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144760239	chr14:43076739-43076740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs12433716	chr14:43076755-43076756	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114931788	chr14:43076969-43076970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554715684	chr14:43076989-43076990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573129550	chr14:43077044-43077045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs534491229	chr14:43077064-43077065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43072000-43075400	Weak transcription	Fetal Lung	lung
2	chr14:43075200-43075400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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