Variant report

Variant	nsv565334
Chromosome Location	chr14:83415104-83443695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEL1L-14	chr14:83443020-83443278	l_1019_chr14:83439562-83451435_testes
2	lnc-SEL1L-14	chr14:83439563-83439788	l_1019_chr14:83439562-83451435_testes

Extended variants
information (count: 265 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11628522	chr14:83415104-83415105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550449709	chr14:83415117-83415118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188060905	chr14:83415121-83415122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532777368	chr14:83415136-83415137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548040985	chr14:83415175-83415176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140994348	chr14:83415223-83415224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75936337	chr14:83415233-83415234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536785210	chr14:83415260-83415261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554663484	chr14:83415319-83415320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549324243	chr14:83415321-83415322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537708534	chr14:83415339-83415340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568015422	chr14:83415342-83415343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192516055	chr14:83415351-83415352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76875465	chr14:83415370-83415371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75341245	chr14:83415371-83415372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553583272	chr14:83415378-83415379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114692543	chr14:83415389-83415390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183776810	chr14:83415397-83415398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149758849	chr14:83415457-83415458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531343085	chr14:83415547-83415548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543721243	chr14:83415635-83415636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188138887	chr14:83415662-83415663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72703510	chr14:83415686-83415687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532893373	chr14:83415739-83415740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572240982	chr14:83415751-83415752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1954084	chr14:83415756-83415757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1954085	chr14:83415762-83415763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548673864	chr14:83415765-83415766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559055525	chr14:83415823-83415824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577257828	chr14:83415863-83415864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386779367	chr14:83415884-83415885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200913380	chr14:83415885-83415886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202181138	chr14:83415886-83415887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398099504	chr14:83415888-83415889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537475849	chr14:83415897-83415898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558708938	chr14:83415906-83415907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571192283	chr14:83415981-83415982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538587275	chr14:83415996-83415997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184788723	chr14:83416019-83416020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571910746	chr14:83416099-83416100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77624980	chr14:83416127-83416128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554662814	chr14:83416179-83416180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576087879	chr14:83416194-83416195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543392475	chr14:83416217-83416218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564915656	chr14:83416243-83416244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189489871	chr14:83416271-83416272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182124598	chr14:83416279-83416280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576792418	chr14:83416312-83416313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146785266	chr14:83416313-83416314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530333731	chr14:83416434-83416435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83413200-83417200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:83417000-83418400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:83417000-83418600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:83417200-83417800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:83417200-83418400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:83417400-83417600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:83417400-83417600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:83417400-83418200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:83417400-83418200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:83417400-83418400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:83417400-83418400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:83417600-83417800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr14:83417800-83418000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:83417800-83418200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:83418000-83418200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:83418200-83418400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr14:83418200-83418400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:83418400-83420400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:83420600-83420800	Enhancers	HUES64 Cell Line	embryonic stem cell

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