Variant report

Variant	nsv976838
Chromosome Location	chr14:78799531-78804498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs9989205	chr14:78799542-78799543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569368379	chr14:78799582-78799583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs213999	chr14:78799653-78799654	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs554843318	chr14:78799692-78799693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568182016	chr14:78799722-78799723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143814266	chr14:78799725-78799726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184713835	chr14:78799734-78799735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576380890	chr14:78799766-78799767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545700701	chr14:78799803-78799804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374490187	chr14:78799824-78799825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538965152	chr14:78799856-78799857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556386601	chr14:78799866-78799867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576177360	chr14:78799867-78799868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114948862	chr14:78799869-78799870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561726111	chr14:78799945-78799946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530266411	chr14:78799973-78799974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552835195	chr14:78800019-78800020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74316352	chr14:78800048-78800049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs214000	chr14:78800072-78800073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs555813877	chr14:78800086-78800087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532515776	chr14:78800099-78800100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552926193	chr14:78800130-78800131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569562231	chr14:78800166-78800167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs214001	chr14:78800188-78800189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114728695	chr14:78800224-78800225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541546923	chr14:78800230-78800231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564463336	chr14:78800247-78800248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547048318	chr14:78800267-78800268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570127661	chr14:78800286-78800287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539017380	chr14:78800290-78800291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555861748	chr14:78800301-78800302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576316738	chr14:78800324-78800325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535210114	chr14:78800327-78800328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535386199	chr14:78800445-78800446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553542301	chr14:78800491-78800492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115717430	chr14:78800493-78800494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75649017	chr14:78800558-78800559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540748669	chr14:78800559-78800560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560544788	chr14:78800569-78800570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577390842	chr14:78800634-78800635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546214419	chr14:78800647-78800648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138548079	chr14:78800649-78800650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532078612	chr14:78800672-78800673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77397540	chr14:78800674-78800675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116309313	chr14:78800683-78800684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527843411	chr14:78800760-78800761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547110149	chr14:78800766-78800767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147250939	chr14:78800769-78800770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545733044	chr14:78800822-78800823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117992890	chr14:78800836-78800837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Acute lymphoblastic leukemia	21098271	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	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
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78798000-78807400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:78801200-78801400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr14:78801400-78802200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:78801600-78802200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:78801600-78802800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:78802000-78802200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:78802200-78802600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:78802200-78810000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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