Variant report

Variant	nsv974271
Chromosome Location	chr14:40307063-40312342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568247200	chr14:40309005-40309006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62016732	chr14:40309007-40309008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188174683	chr14:40309066-40309067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552881894	chr14:40309076-40309077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572928119	chr14:40309089-40309090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370733134	chr14:40309120-40309121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191711561	chr14:40309239-40309240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555133307	chr14:40309245-40309246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184667625	chr14:40309266-40309267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544180317	chr14:40309279-40309280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564066429	chr14:40309291-40309292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532997508	chr14:40309294-40309295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141122967	chr14:40309329-40309330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191404049	chr14:40309333-40309334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550625221	chr14:40309369-40309370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57157305	chr14:40309370-40309371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187401991	chr14:40309378-40309379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528643363	chr14:40309384-40309385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148204840	chr14:40309419-40309420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568418323	chr14:40309450-40309451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114761300	chr14:40309456-40309457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556204936	chr14:40309474-40309475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10138910	chr14:40309496-40309497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570494763	chr14:40309558-40309559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539474779	chr14:40309722-40309723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546459546	chr14:40309770-40309771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566772070	chr14:40309926-40309927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116757645	chr14:40309933-40309934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3065859	chr14:40309943-40309944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76130115	chr14:40309944-40309945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71130868	chr14:40309946-40309947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398024859	chr14:40309949-40309950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560429363	chr14:40310055-40310056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572266302	chr14:40310076-40310077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555540391	chr14:40310124-40310125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192590025	chr14:40310313-40310314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370665044	chr14:40310352-40310353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs8015455	chr14:40310358-40310359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557916288	chr14:40310382-40310383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12892026	chr14:40310503-40310504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540249867	chr14:40310510-40310511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559755584	chr14:40310524-40310525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374849900	chr14:40310546-40310547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573487116	chr14:40310583-40310584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542208792	chr14:40310598-40310599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562301116	chr14:40310599-40310600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150753347	chr14:40310616-40310617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550636806	chr14:40310628-40310629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367591050	chr14:40310690-40310691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149302084	chr14:40310845-40310846	Weak transcription	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40309000-40309200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:40309200-40313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:40309600-40310200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:40310000-40310400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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