Variant report

Variant	esv19813
Chromosome Location	chr14:85276926-85278588
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	chr14:85276415..85277177-chr14:85295527..85296295,2	MCF-7	breast:
2	chr14:85245111..85246756-chr14:85275178..85277900,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559760879	chr14:85276940-85276941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574746583	chr14:85277002-85277003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547075815	chr14:85277018-85277019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139641982	chr14:85277025-85277026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377612099	chr14:85277030-85277031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552431384	chr14:85277057-85277058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370900748	chr14:85277133-85277134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564362412	chr14:85277157-85277158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528626570	chr14:85277178-85277179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558442372	chr14:85277293-85277294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199625372	chr14:85277312-85277313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546298138	chr14:85277329-85277330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191740031	chr14:85277364-85277365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181314978	chr14:85277385-85277386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185596128	chr14:85277426-85277427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146074859	chr14:85277481-85277482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115274674	chr14:85277491-85277492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545773352	chr14:85277494-85277495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375447183	chr14:85277496-85277497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558052051	chr14:85277501-85277502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573086453	chr14:85277540-85277541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370161223	chr14:85277570-85277571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533930478	chr14:85277592-85277593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555270549	chr14:85277609-85277610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574919676	chr14:85277611-85277612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541944366	chr14:85277625-85277626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189664354	chr14:85277632-85277633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182260161	chr14:85277649-85277650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575206934	chr14:85277653-85277654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546104382	chr14:85277682-85277683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187643888	chr14:85277718-85277719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192310999	chr14:85277739-85277740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111484280	chr14:85277748-85277749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540867690	chr14:85277788-85277789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34465222	chr14:85277818-85277819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183260306	chr14:85277846-85277847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376779217	chr14:85277848-85277849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139400522	chr14:85277862-85277863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188624973	chr14:85277869-85277870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374468669	chr14:85277900-85277901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192996261	chr14:85277909-85277910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184105599	chr14:85277952-85277953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551705949	chr14:85277991-85277992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35474333	chr14:85278019-85278020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566821858	chr14:85278025-85278026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567212419	chr14:85278058-85278059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555572723	chr14:85278092-85278093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567327538	chr14:85278130-85278131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142647927	chr14:85278154-85278155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112271388	chr14:85278168-85278169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85273200-85281800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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