Variant report

Variant	nsv514752
Chromosome Location	chr14:78638503-78640247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571936555	chr14:78638556-78638557	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558520097	chr14:78638635-78638636	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs578100869	chr14:78638657-78638658	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs151289367	chr14:78638670-78638671	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191891470	chr14:78638672-78638673	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs28630704	chr14:78638700-78638701	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557909526	chr14:78638701-78638702	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145842538	chr14:78638710-78638711	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558895727	chr14:78638770-78638771	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7148402	chr14:78638775-78638776	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111899884	chr14:78638789-78638790	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377047951	chr14:78638792-78638793	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536880879	chr14:78638798-78638799	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs181478579	chr14:78638825-78638826	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185850148	chr14:78638899-78638900	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111293213	chr14:78638906-78638907	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372184261	chr14:78638913-78638914	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375365798	chr14:78638979-78638980	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190225538	chr14:78638997-78638998	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529356030	chr14:78639003-78639004	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573646813	chr14:78639004-78639005	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549525263	chr14:78639015-78639016	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs566062521	chr14:78639081-78639082	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs17107028	chr14:78639088-78639089	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs7152805	chr14:78639132-78639133	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571862271	chr14:78639133-78639134	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529114575	chr14:78639159-78639160	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537353521	chr14:78639161-78639162	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553881539	chr14:78639202-78639203	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs213561	chr14:78639213-78639214	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144954012	chr14:78639251-78639252	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545996726	chr14:78639254-78639255	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542293675	chr14:78639282-78639283	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs138734513	chr14:78639379-78639380	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs572496588	chr14:78639423-78639424	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564638131	chr14:78639478-78639479	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544655184	chr14:78639502-78639503	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564732525	chr14:78639511-78639512	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs537366275	chr14:78639578-78639579	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34186704	chr14:78639588-78639589	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182382017	chr14:78639629-78639630	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs561113226	chr14:78639672-78639673	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529947673	chr14:78639714-78639715	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs213562	chr14:78639717-78639718	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531917214	chr14:78639736-78639737	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs28570598	chr14:78639763-78639764	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550579504	chr14:78639780-78639781	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113080819	chr14:78639782-78639783	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569206078	chr14:78639792-78639793	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562357974	chr14:78639823-78639824	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78636200-78641800	Active TSS	Fetal Brain Female	brain
2	chr14:78636400-78641400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr14:78636600-78639600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:78636800-78638600	Active TSS	Brain Hippocampus Middle	brain
5	chr14:78636800-78640200	Weak transcription	Lung	lung
6	chr14:78636800-78640800	Active TSS	Brain Anterior Caudate	brain
7	chr14:78637000-78639600	Active TSS	Brain Angular Gyrus	brain
8	chr14:78637000-78639800	Active TSS	Brain Cingulate Gyrus	brain
9	chr14:78637000-78640800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:78637000-78641000	Active TSS	Fetal Brain Male	brain
11	chr14:78637200-78638800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:78637200-78639000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:78637200-78640200	Active TSS	Brain Germinal Matrix	brain
14	chr14:78637600-78638800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:78637800-78639000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:78638000-78638600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:78638000-78638800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
18	chr14:78638200-78638600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:78638200-78638600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:78638200-78641200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:78638600-78640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:78638800-78639000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:78638800-78640000	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr14:78639600-78640800	Weak transcription	Brain Angular Gyrus	brain
25	chr14:78639600-78644600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:78640200-78640400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:78640200-78641400	Enhancers	Lung	lung
28	chr14:78640200-78642200	Flanking Active TSS	Brain Germinal Matrix	brain

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