Variant report

Variant	nsv1047998
Chromosome Location	chr14:41469945-41485565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 647 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1779599	chr14:41469945-41469946	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113536302	chr14:41469970-41469971	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371523352	chr14:41469983-41469984	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186117814	chr14:41469989-41469990	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559845905	chr14:41470000-41470001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533482931	chr14:41470007-41470008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75142313	chr14:41470032-41470033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79840784	chr14:41470048-41470049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75077731	chr14:41470053-41470054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549449243	chr14:41470068-41470069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568042030	chr14:41470072-41470073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530601780	chr14:41470090-41470091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188171492	chr14:41470092-41470093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1779600	chr14:41470097-41470098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35055236	chr14:41470119-41470120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571772353	chr14:41470132-41470133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367899178	chr14:41470151-41470152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180706570	chr14:41470174-41470175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557508464	chr14:41470188-41470189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185631755	chr14:41470191-41470192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17665297	chr14:41470196-41470197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555327064	chr14:41470220-41470221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147362321	chr14:41470222-41470223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191170547	chr14:41470254-41470255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559809519	chr14:41470277-41470278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533446150	chr14:41470296-41470297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183786808	chr14:41470335-41470336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12147812	chr14:41470343-41470344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7151714	chr14:41470365-41470366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531057013	chr14:41470370-41470371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1376838	chr14:41470426-41470427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567820729	chr14:41470513-41470514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139553223	chr14:41470549-41470550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34458582	chr14:41470575-41470576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112415332	chr14:41470587-41470588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201786421	chr14:41470595-41470596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76152509	chr14:41470610-41470611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11627809	chr14:41470616-41470617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557751293	chr14:41470617-41470618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557614935	chr14:41470620-41470621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573069183	chr14:41470631-41470632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569736750	chr14:41470642-41470643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568250967	chr14:41470655-41470656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11623232	chr14:41470661-41470662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143472883	chr14:41470662-41470663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534138792	chr14:41470700-41470701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573827833	chr14:41470706-41470707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541367243	chr14:41470752-41470753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577774530	chr14:41470753-41470754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547412989	chr14:41470756-41470757	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
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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41444600-41473600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41446200-41473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:41469000-41486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:41469800-41470000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:41469800-41470600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:41469800-41473200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:41470000-41472800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:41473600-41474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:41474000-41476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:41485200-41485400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:41485400-41485600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:41485400-41485600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:41485400-41485800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:41485400-41486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:41485400-41486400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:41485400-41486600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr14:41485400-41486800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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