Variant report

Variant	nsv820216
Chromosome Location	chr14:25262148-25263226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25257418..25259625-chr14:25262130..25263668,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs854365	chr14:25262149-25262150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560385439	chr14:25262157-25262158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532457226	chr14:25262210-25262211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552352092	chr14:25262213-25262214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569092306	chr14:25262215-25262216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73589777	chr14:25262226-25262227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551034275	chr14:25262284-25262285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145924461	chr14:25262288-25262289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536642106	chr14:25262289-25262290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12589949	chr14:25262301-25262302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566778524	chr14:25262342-25262343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568487777	chr14:25262347-25262348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539176990	chr14:25262369-25262370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11627616	chr14:25262373-25262374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs860540	chr14:25262397-25262398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs80316599	chr14:25262408-25262409	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs183015518	chr14:25262419-25262420	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs554646334	chr14:25262424-25262425	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs12587304	chr14:25262425-25262426	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78666713	chr14:25262476-25262477	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs373366673	chr14:25262514-25262515	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs147834141	chr14:25262515-25262516	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs188358770	chr14:25262554-25262555	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs536284573	chr14:25262585-25262586	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs77628746	chr14:25262612-25262613	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs192916107	chr14:25262629-25262630	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs561395607	chr14:25262656-25262657	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs530142136	chr14:25262667-25262668	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs182802904	chr14:25262674-25262675	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs532873042	chr14:25262694-25262695	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs56369292	chr14:25262766-25262767	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538682161	chr14:25262804-25262805	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs371262150	chr14:25262861-25262862	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs60958731	chr14:25262891-25262892	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs574262769	chr14:25262902-25262903	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs538506932	chr14:25262909-25262910	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs854366	chr14:25262952-25262953	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187925156	chr14:25262961-25262962	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs201788544	chr14:25262986-25262987	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs34450563	chr14:25262987-25262988	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs398117986	chr14:25262989-25262990	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs545552359	chr14:25263018-25263019	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs546640336	chr14:25263025-25263026	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs148849240	chr14:25263032-25263033	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs574425948	chr14:25263088-25263089	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs372267663	chr14:25263124-25263125	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs560372923	chr14:25263222-25263223	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25259000-25263800	Weak transcription	Fetal Brain Male	brain
2	chr14:25261800-25264400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:25261800-25268200	Weak transcription	Fetal Lung	lung
4	chr14:25262400-25263400	Bivalent Enhancer	HepG2	liver

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