Variant report

Variant	esv3416507
Chromosome Location	chr14:64844547-64845074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369942959	chr14:64844584-64844585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547492791	chr14:64844586-64844587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142898737	chr14:64844601-64844602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558308154	chr14:64844637-64844638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543648526	chr14:64844661-64844662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376368617	chr14:64844678-64844679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150761247	chr14:64844685-64844686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370394733	chr14:64844783-64844784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554310946	chr14:64844823-64844824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2983742	chr14:64844827-64844828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs543242317	chr14:64844849-64844850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562627289	chr14:64844903-64844904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576502866	chr14:64844930-64844931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547382006	chr14:64844935-64844936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191913369	chr14:64844973-64844974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565137395	chr14:64844981-64844982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527945282	chr14:64844996-64844997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2983741	chr14:64844997-64844998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs561435394	chr14:64845014-64845015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530292764	chr14:64845020-64845021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550430036	chr14:64845038-64845039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543844618	chr14:64845065-64845066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12889097	chr14:64845072-64845073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64816400-64853400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:64839200-64853800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:64843800-64853400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:64844200-64854000	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links