Variant report

Variant	esv3516593
Chromosome Location	chr14:85138449-85140647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543586914	chr14:85138455-85138456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546661507	chr14:85138499-85138500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558500956	chr14:85138501-85138502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576796740	chr14:85138516-85138517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111733062	chr14:85138608-85138609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541035324	chr14:85138635-85138636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559356597	chr14:85138643-85138644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529940114	chr14:85138655-85138656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35380624	chr14:85138675-85138676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541584185	chr14:85138745-85138746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563182893	chr14:85138791-85138792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531672796	chr14:85138794-85138795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546337322	chr14:85138816-85138817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139002329	chr14:85138817-85138818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140727490	chr14:85138845-85138846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17120207	chr14:85138846-85138847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539679571	chr14:85138875-85138876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17186058	chr14:85138889-85138890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566338167	chr14:85138954-85138955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79090901	chr14:85139026-85139027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184993547	chr14:85139049-85139050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56246022	chr14:85139058-85139059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190288829	chr14:85139059-85139060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558332952	chr14:85139108-85139109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557731940	chr14:85139122-85139123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146441687	chr14:85139141-85139142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540622605	chr14:85139166-85139167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552940982	chr14:85139180-85139181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555692068	chr14:85139191-85139192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138289161	chr14:85139192-85139193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541750845	chr14:85139236-85139237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149587162	chr14:85139262-85139263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559439015	chr14:85139285-85139286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181886866	chr14:85139326-85139327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144305810	chr14:85139384-85139385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565188668	chr14:85139387-85139388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573952335	chr14:85139391-85139392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541532834	chr14:85139403-85139404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532650522	chr14:85139404-85139405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369150953	chr14:85139542-85139543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386382015	chr14:85139543-85139544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386382016	chr14:85139555-85139556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71117738	chr14:85139556-85139557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547468096	chr14:85139599-85139600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535055334	chr14:85139641-85139642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559835671	chr14:85139683-85139684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530393788	chr14:85139688-85139689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548931426	chr14:85139689-85139690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139149847	chr14:85139694-85139695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8003343	chr14:85139719-85139720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85135600-85143600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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