Variant report

Variant	nsv1052711
Chromosome Location	chr14:41468640-41485565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 691 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535592347	chr14:41468661-41468662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146572829	chr14:41468675-41468676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115550879	chr14:41468774-41468775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145582022	chr14:41468798-41468799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540128045	chr14:41468807-41468808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7151008	chr14:41468814-41468815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72673766	chr14:41468828-41468829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10146521	chr14:41468846-41468847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555904459	chr14:41468863-41468864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575351495	chr14:41468873-41468874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186862488	chr14:41468874-41468875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1779597	chr14:41468933-41468934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528967587	chr14:41468950-41468951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559898334	chr14:41468973-41468974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557906813	chr14:41468986-41468987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191308094	chr14:41468992-41468993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544015304	chr14:41469032-41469033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184181937	chr14:41469034-41469035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563990303	chr14:41469039-41469040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531516111	chr14:41469058-41469059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141319232	chr14:41469186-41469187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188506820	chr14:41469240-41469241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529366317	chr14:41469276-41469277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201142711	chr14:41469306-41469307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17111284	chr14:41469347-41469348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566274653	chr14:41469348-41469349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145451096	chr14:41469389-41469390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137975900	chr14:41469409-41469410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570332089	chr14:41469469-41469470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79670347	chr14:41469478-41469479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556105722	chr14:41469533-41469534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149513161	chr14:41469546-41469547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574381642	chr14:41469557-41469558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80238259	chr14:41469601-41469602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6572048	chr14:41469664-41469665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1779598	chr14:41469731-41469732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545551833	chr14:41469749-41469750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193192628	chr14:41469774-41469775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375479224	chr14:41469813-41469814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571133937	chr14:41469826-41469827	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185155722	chr14:41469855-41469856	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190747369	chr14:41469905-41469906	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182028431	chr14:41469934-41469935	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572701767	chr14:41469943-41469944	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1779599	chr14:41469945-41469946	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113536302	chr14:41469970-41469971	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371523352	chr14:41469983-41469984	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186117814	chr14:41469989-41469990	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559845905	chr14:41470000-41470001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533482931	chr14:41470007-41470008	Weak transcription 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
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:21 , 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	chr14:41446200-41469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:41446200-41473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:41466600-41469800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:41469000-41486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:41469200-41469800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:41469400-41469600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:41469800-41470000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:41469800-41470600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:41469800-41473200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:41470000-41472800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:41473600-41474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:41474000-41476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:41485200-41485400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:41485400-41485600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:41485400-41485600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:41485400-41485800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:41485400-41486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:41485400-41486400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:41485400-41486600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:41485400-41486800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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