Variant report

Variant	esv3390955
Chromosome Location	chr14:32304445-32304696
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	chr14:32295269..32297310-chr14:32302685..32304466,2	K562	blood:
2	chr14:32303855..32305860-chr14:32313557..32315760,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373570354	chr14:32304446-32304447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151284156	chr14:32304515-32304516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540062912	chr14:32304518-32304519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557863054	chr14:32304591-32304592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74043633	chr14:32304596-32304597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140608286	chr14:32304633-32304634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7152090	chr14:32304646-32304647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573558315	chr14:32304667-32304668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544061422	chr14:32304687-32304688	Weak transcription Enhancers	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
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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:32281800-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:32291000-32310400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:32294200-32328800	Weak transcription	Ovary	ovary
5	chr14:32294800-32328000	Weak transcription	Left Ventricle	heart
6	chr14:32295000-32332800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:32297000-32306600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:32297400-32325800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:32298200-32322000	Weak transcription	Primary T cells from cord blood	blood
10	chr14:32299000-32325800	Weak transcription	Fetal Stomach	stomach
11	chr14:32303600-32304600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:32303800-32304600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:32303800-32304600	Enhancers	Fetal Heart	heart
14	chr14:32303800-32304600	Enhancers	HUVEC	blood vessel
15	chr14:32303800-32304800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:32303800-32304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:32303800-32305000	Enhancers	Hela-S3	cervix
18	chr14:32304000-32304600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:32304000-32304600	Enhancers	HMEC	breast
20	chr14:32304000-32304800	Enhancers	NHDF-Ad	bronchial
21	chr14:32304200-32319600	Weak transcription	HepG2	liver
22	chr14:32304400-32304800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr14:32304400-32312200	Weak transcription	Esophagus	oesophagus
24	chr14:32304600-32312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:32304600-32312400	Weak transcription	HUVEC	blood vessel

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