Variant report

Variant	nsv1053265
Chromosome Location	chr14:82936138-82983060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117009054	chr14:82956823-82956824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75361440	chr14:82956825-82956826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537465033	chr14:82956832-82956833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556634203	chr14:82956890-82956891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17116808	chr14:82956912-82956913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570892141	chr14:82956963-82956964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72594874	chr14:82965801-82965802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531148563	chr14:82965811-82965812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552768839	chr14:82965824-82965825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577578619	chr14:82965828-82965829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564654418	chr14:82965829-82965830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528809001	chr14:82965954-82965955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373203437	chr14:82965962-82965963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377013332	chr14:82966008-82966009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371364339	chr14:82966024-82966025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547267723	chr14:82966055-82966056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568372623	chr14:82966196-82966197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143212855	chr14:82966206-82966207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550684475	chr14:82966217-82966218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10143499	chr14:82966239-82966240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539533155	chr14:82966242-82966243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558361086	chr14:82966286-82966287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199733331	chr14:82966312-82966313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538588129	chr14:82966366-82966367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570624430	chr14:82966437-82966438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200693978	chr14:82966504-82966505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534654057	chr14:82966510-82966511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28622516	chr14:82966511-82966512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574351663	chr14:82966523-82966524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144808536	chr14:82966530-82966531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188706605	chr14:82966577-82966578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181082188	chr14:82966596-82966597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374299670	chr14:82966611-82966612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545892975	chr14:82966639-82966640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72699354	chr14:82966663-82966664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528674959	chr14:82966688-82966689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561094947	chr14:82966724-82966725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370001876	chr14:82966891-82966892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74066321	chr14:82966915-82966916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562379177	chr14:82966950-82966951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114986039	chr14:82966969-82966970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1911223	chr14:82966970-82966971	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs568892525	chr14:82966977-82966978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141896860	chr14:82966993-82966994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186169743	chr14:82967023-82967024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190492609	chr14:82967084-82967085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564340571	chr14:82967094-82967095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7152703	chr14:82967103-82967104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370425244	chr14:82967112-82967113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553011350	chr14:82967113-82967114	Enhancers	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
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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82956800-82957000	Enhancers	Fetal Lung	lung
2	chr14:82965800-82966000	Enhancers	Fetal Lung	lung
3	chr14:82966000-82967000	Weak transcription	Fetal Lung	lung
4	chr14:82967000-82967400	Enhancers	Colon Smooth Muscle	Colon
5	chr14:82967000-82968400	Enhancers	Fetal Lung	lung
6	chr14:82967000-82968400	Enhancers	Stomach Smooth Muscle	stomach
7	chr14:82967200-82968200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr14:82976000-82976400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:82976000-82976800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:82976200-82976600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:82976200-82976800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:82976200-82977400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:82976600-82977000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:82979600-82980000	Enhancers	Fetal Brain Male	brain

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