Variant report

Variant	esv3394362
Chromosome Location	chr14:56305273-56305774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56300351..56302227-chr14:56304134..56305783,2	MCF-7	breast:
2	chr14:56304789..56307595-chr14:56316105..56318121,2	K562	blood:
3	chr14:56302735..56305640-chr14:56310752..56313567,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577721015	chr14:56305304-56305305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545061215	chr14:56305321-56305322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139760728	chr14:56305378-56305379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149931516	chr14:56305379-56305380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71101719	chr14:56305412-56305413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148683930	chr14:56305413-56305414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4901608	chr14:56305422-56305423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528245818	chr14:56305442-56305443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12894971	chr14:56305443-56305444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201625210	chr14:56305453-56305454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139244900	chr14:56305454-56305455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201398027	chr14:56305456-56305457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10139439	chr14:56305459-56305460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528922039	chr14:56305496-56305497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150138259	chr14:56305513-56305514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4901609	chr14:56305536-56305537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539546680	chr14:56305541-56305542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551461292	chr14:56305552-56305553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138244493	chr14:56305563-56305564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534115602	chr14:56305568-56305569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377616744	chr14:56305612-56305613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73274319	chr14:56305662-56305663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574248211	chr14:56305690-56305691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538486059	chr14:56305700-56305701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556150229	chr14:56305725-56305726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570498208	chr14:56305746-56305747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577583333	chr14:56305756-56305757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56304400-56305400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:56305400-56311600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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