Variant report

Variant	esv3356580
Chromosome Location	chr14:71689851-71690352
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	chr14:71688920..71691041-chr14:71691628..71693496,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 66 )

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	rs7155577	chr14:71689851-71689852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539325192	chr14:71689894-71689895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28618377	chr14:71689921-71689922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542890244	chr14:71689956-71689957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575907010	chr14:71689976-71689977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542895922	chr14:71689977-71689978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554609965	chr14:71689978-71689979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572857790	chr14:71689988-71689989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562520550	chr14:71689994-71689995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563214846	chr14:71690029-71690030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147585299	chr14:71690105-71690106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564553224	chr14:71690106-71690107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142198619	chr14:71690146-71690147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544077814	chr14:71690149-71690150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562488838	chr14:71690214-71690215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529830591	chr14:71690218-71690219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79322947	chr14:71690238-71690239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78219708	chr14:71690243-71690244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76274574	chr14:71690249-71690250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528593385	chr14:71690252-71690253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547107216	chr14:71690254-71690255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79725913	chr14:71690255-71690256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75885474	chr14:71690262-71690263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76699951	chr14:71690264-71690265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145947973	chr14:71690291-71690292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575113038	chr14:71690325-71690326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75397834	chr14:71690336-71690337	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71680600-71702600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:71680800-71691600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:71680800-71691800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:71682600-71694800	Weak transcription	Pancreas	Pancrea
5	chr14:71687400-71691600	Weak transcription	Ovary	ovary
6	chr14:71687400-71699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:71689000-71690400	Weak transcription	Spleen	Spleen
8	chr14:71689000-71695000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:71689200-71691600	Weak transcription	Brain Substantia Nigra	brain

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