Variant report

Variant	esv3303366
Chromosome Location	chr14:32204168-32204887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555883773	chr14:32204175-32204176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116811828	chr14:32204240-32204241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4981123	chr14:32204259-32204260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11846852	chr14:32204263-32204264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539694347	chr14:32204272-32204273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557799579	chr14:32204273-32204274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573105933	chr14:32204278-32204279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59948190	chr14:32204299-32204300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146372846	chr14:32204405-32204406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57612264	chr14:32204407-32204408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143615591	chr14:32204422-32204423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57015994	chr14:32204452-32204453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185864288	chr14:32204458-32204459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191163232	chr14:32204461-32204462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557303072	chr14:32204529-32204530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575584164	chr14:32204530-32204531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6571459	chr14:32204607-32204608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372632961	chr14:32204608-32204609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183262269	chr14:32204686-32204687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111244100	chr14:32204692-32204693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540787649	chr14:32204724-32204725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562308987	chr14:32204733-32204734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560454386	chr14:32204775-32204776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528993905	chr14:32204788-32204789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550721365	chr14:32204797-32204798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377103115	chr14:32204813-32204814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370481095	chr14:32204825-32204826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551362253	chr14:32204831-32204832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566610686	chr14:32204835-32204836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533878217	chr14:32204843-32204844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555142966	chr14:32204848-32204849	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
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
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
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32173400-32218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:32175400-32205600	Weak transcription	Ovary	ovary
3	chr14:32186800-32205600	Weak transcription	Primary T cells from cord blood	blood
4	chr14:32199200-32210200	Weak transcription	HepG2	liver
5	chr14:32199800-32208200	Weak transcription	Left Ventricle	heart
6	chr14:32201200-32209000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:32201400-32205600	Weak transcription	Fetal Intestine Small	intestine
8	chr14:32201400-32208800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:32201400-32210200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links