Variant report

Variant	nsv983965
Chromosome Location	chr14:83886072-83892448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 244 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571978106	chr14:83886119-83886120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373024432	chr14:83886147-83886148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111720448	chr14:83886160-83886161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs452029	chr14:83886219-83886220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575978253	chr14:83886251-83886252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543790139	chr14:83886255-83886256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11627864	chr14:83886260-83886261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139161089	chr14:83886270-83886271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541235783	chr14:83886287-83886288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559474083	chr14:83886293-83886294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140760019	chr14:83886299-83886300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530174463	chr14:83886316-83886317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537794442	chr14:83886371-83886372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548647853	chr14:83886438-83886439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186916263	chr14:83886469-83886470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs229823	chr14:83886493-83886494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530956054	chr14:83886502-83886503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11159594	chr14:83886506-83886507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571572995	chr14:83886530-83886531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371651252	chr14:83886534-83886535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566375129	chr14:83886549-83886550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538885876	chr14:83886550-83886551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542021446	chr14:83886564-83886565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375601321	chr14:83886580-83886581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191477686	chr14:83886582-83886583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536000245	chr14:83886637-83886638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2888309	chr14:83886642-83886643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554628357	chr14:83886650-83886651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576030647	chr14:83886651-83886652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537066190	chr14:83886696-83886697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17118592	chr14:83886709-83886710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577124276	chr14:83886749-83886750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367758479	chr14:83886764-83886765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183620247	chr14:83886776-83886777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559555540	chr14:83886804-83886805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574954293	chr14:83886855-83886856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188725159	chr14:83886857-83886858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563819093	chr14:83886858-83886859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535279943	chr14:83886862-83886863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573297541	chr14:83886866-83886867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114644382	chr14:83886896-83886897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552605766	chr14:83886897-83886898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564467411	chr14:83886935-83886936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540722099	chr14:83886988-83886989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75977078	chr14:83886989-83886990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532531067	chr14:83886995-83886996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374617124	chr14:83887036-83887037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs229824	chr14:83887084-83887085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139066995	chr14:83887090-83887091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368975329	chr14:83887091-83887092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83885800-83886200	Enhancers	Fetal Heart	heart
2	chr14:83886000-83888600	Weak transcription	HSMM	muscle
3	chr14:83887800-83890400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:83887800-83890600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:83888200-83889000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:83888600-83889000	Enhancers	HSMM	muscle
7	chr14:83889000-83890200	Weak transcription	HSMM	muscle
8	chr14:83890200-83891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:83890200-83891600	Enhancers	HSMM	muscle
10	chr14:83891000-83891400	Enhancers	HSMMtube	muscle
11	chr14:83891000-83891600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:83891000-83891600	Enhancers	HMEC	breast
13	chr14:83891000-83891800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:83891000-83892600	Enhancers	NHEK	skin
15	chr14:83891000-83892800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:83891000-83892800	Enhancers	NHDF-Ad	bronchial
17	chr14:83891200-83891400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:83891200-83892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:83891200-83892600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:83891400-83892600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:83891600-83892000	Weak transcription	HMEC	breast
22	chr14:83891600-83892600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:83891600-83896400	Weak transcription	HSMM	muscle
24	chr14:83892000-83892600	Enhancers	HMEC	breast
25	chr14:83892200-83892400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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