Variant report

Variant	nsv974354
Chromosome Location	chr14:81498879-81500293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143052843	chr14:81498899-81498900	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557724056	chr14:81498908-81498909	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575989337	chr14:81498950-81498951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543491114	chr14:81498956-81498957	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146663071	chr14:81499035-81499036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180709412	chr14:81499037-81499038	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552139709	chr14:81499051-81499052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541125265	chr14:81499081-81499082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143533131	chr14:81499092-81499093	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117434229	chr14:81499145-81499146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2192727	chr14:81499155-81499156	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs547965790	chr14:81499159-81499160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569641718	chr14:81499170-81499171	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111639199	chr14:81499213-81499214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183944606	chr14:81499238-81499239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549825816	chr14:81499246-81499247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570832315	chr14:81499306-81499307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371092678	chr14:81499364-81499365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534661619	chr14:81499379-81499380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547089048	chr14:81499453-81499454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568449121	chr14:81499493-81499494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2268470	chr14:81499495-81499496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs557587366	chr14:81499511-81499512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2268471	chr14:81499539-81499540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs540148208	chr14:81499562-81499563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558122247	chr14:81499600-81499601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576795183	chr14:81499605-81499606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74771569	chr14:81499624-81499625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145316813	chr14:81499632-81499633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574172743	chr14:81499638-81499639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541667580	chr14:81499664-81499665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563131665	chr14:81499702-81499703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530576304	chr14:81499726-81499727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188663595	chr14:81499782-81499783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181390491	chr14:81499786-81499787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7144058	chr14:81499830-81499831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138427221	chr14:81499840-81499841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377112904	chr14:81499898-81499899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111229401	chr14:81499899-81499900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142598924	chr14:81499900-81499901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377735339	chr14:81499901-81499902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568588839	chr14:81499902-81499903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201499884	chr14:81499903-81499904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77725685	chr14:81499904-81499905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200023775	chr14:81499915-81499916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535945458	chr14:81499928-81499929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558393145	chr14:81499965-81499966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373640087	chr14:81499986-81499987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141964241	chr14:81500018-81500019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540011818	chr14:81500031-81500032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81484600-81502400	Weak transcription	Liver	Liver
2	chr14:81492800-81499000	Weak transcription	Fetal Thymus	thymus
3	chr14:81495000-81500000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr14:81495800-81499600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr14:81496000-81499600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:81497600-81499000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:81498000-81499200	Strong transcription	Dnd41	blood
8	chr14:81498600-81499800	Enhancers	Thymus	Thymus
9	chr14:81498600-81500600	Enhancers	Primary T cells from cord blood	blood
10	chr14:81499000-81499800	Enhancers	Fetal Thymus	thymus
11	chr14:81499000-81501000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:81499200-81501000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:81499200-81502400	Weak transcription	Dnd41	blood
14	chr14:81499600-81500800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:81499600-81501000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr14:81499800-81501600	Weak transcription	Thymus	Thymus
17	chr14:81500000-81501000	Enhancers	Primary monocytes fromperipheralblood	blood

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