Variant report

Variant	nsv518803
Chromosome Location	chr14:40312300-40314470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1957210	chr14:40312300-40312301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190308457	chr14:40312305-40312306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575539674	chr14:40312325-40312326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1957209	chr14:40312364-40312365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181898502	chr14:40312380-40312381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527835971	chr14:40312386-40312387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141609321	chr14:40312387-40312388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187390957	chr14:40312401-40312402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540705625	chr14:40312402-40312403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560409582	chr14:40312426-40312427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549079034	chr14:40312444-40312445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1957208	chr14:40312480-40312481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542665119	chr14:40312491-40312492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371037809	chr14:40312497-40312498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567718108	chr14:40312532-40312533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116208706	chr14:40312540-40312541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531635536	chr14:40312547-40312548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192285845	chr14:40312565-40312566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537928783	chr14:40312576-40312577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571455208	chr14:40312630-40312631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527524703	chr14:40312634-40312635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182695403	chr14:40312712-40312713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567262604	chr14:40312720-40312721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141106470	chr14:40312723-40312724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150176123	chr14:40312782-40312783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138369684	chr14:40312783-40312784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4903075	chr14:40312793-40312794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187815304	chr14:40312826-40312827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4903076	chr14:40312839-40312840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148817171	chr14:40312846-40312847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190309371	chr14:40312851-40312852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542816850	chr14:40312902-40312903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574055612	chr14:40312944-40312945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12883812	chr14:40312956-40312957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369798740	chr14:40312967-40312968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143455364	chr14:40312994-40312995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562863806	chr14:40313019-40313020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs8012095	chr14:40313039-40313040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs386776659	chr14:40313053-40313054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs386776660	chr14:40313066-40313067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113828879	chr14:40313067-40313068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs8012225	chr14:40313068-40313069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527444119	chr14:40313098-40313099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117410591	chr14:40313110-40313111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61032775	chr14:40313117-40313118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs8012689	chr14:40313193-40313194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182574412	chr14:40313339-40313340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187529802	chr14:40313373-40313374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538275468	chr14:40313380-40313381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373974315	chr14:40313437-40313438	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40309200-40313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:40313000-40313400	Enhancers	Fetal Intestine Large	intestine
3	chr14:40313400-40313600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links