Variant report

Variant	nsv1235
Chromosome Location	chr14:32986527-33011524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1038 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535784458	chr14:32986577-32986578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564553861	chr14:32986578-32986579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528623154	chr14:32986599-32986600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546799914	chr14:32986600-32986601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116035355	chr14:32986645-32986646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142911895	chr14:32986683-32986684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10138956	chr14:32986684-32986685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140178978	chr14:32986741-32986742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539031832	chr14:32986786-32986787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149467970	chr14:32986787-32986788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566153368	chr14:32986824-32986825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371255542	chr14:32986852-32986853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143862413	chr14:32986858-32986859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183309742	chr14:32986932-32986933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542108056	chr14:32986942-32986943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373800352	chr14:32986968-32986969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557675168	chr14:32986971-32986972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576039843	chr14:32986986-32986987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554874690	chr14:32987009-32987010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117857447	chr14:32987046-32987047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367715323	chr14:32987067-32987068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188045406	chr14:32987068-32987069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562044284	chr14:32987096-32987097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545878962	chr14:32987097-32987098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529082698	chr14:32987099-32987100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550536849	chr14:32987122-32987123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562419507	chr14:32987146-32987147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533028711	chr14:32987196-32987197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557920682	chr14:32987209-32987210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551276905	chr14:32987233-32987234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192137194	chr14:32987252-32987253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185190019	chr14:32987258-32987259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549057538	chr14:32987319-32987320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567287119	chr14:32987376-32987377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189695035	chr14:32987387-32987388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557618122	chr14:32987414-32987415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28871152	chr14:32987464-32987465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540105836	chr14:32987480-32987481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558498442	chr14:32987491-32987492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114360380	chr14:32987556-32987557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115258121	chr14:32987584-32987585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543652214	chr14:32987603-32987604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562196436	chr14:32987605-32987606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574078293	chr14:32987609-32987610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147787159	chr14:32987612-32987613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112184040	chr14:32987631-32987632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367725129	chr14:32987647-32987648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145233118	chr14:32987677-32987678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551213464	chr14:32987680-32987681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147652357	chr14:32987687-32987688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32979200-32986600	Weak transcription	Right Ventricle	heart
2	chr14:32980400-33002000	Weak transcription	Aorta	Aorta
3	chr14:32983600-33006000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:32984200-32986600	Weak transcription	Brain Substantia Nigra	brain
5	chr14:32984200-32986600	Weak transcription	Left Ventricle	heart
6	chr14:32984200-32986600	Weak transcription	Psoas Muscle	Psoas
7	chr14:32984400-33004800	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:32985000-32993800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:32985400-32993800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:32985800-32997400	Weak transcription	Fetal Heart	heart
11	chr14:32986200-32986600	Weak transcription	Esophagus	oesophagus
12	chr14:32986600-32986800	Enhancers	Psoas Muscle	Psoas
13	chr14:32986600-32987000	Enhancers	Left Ventricle	heart
14	chr14:32986600-32987000	Enhancers	Right Ventricle	heart
15	chr14:32986600-32987200	Enhancers	Brain Substantia Nigra	brain
16	chr14:32987000-32992800	Weak transcription	Left Ventricle	heart
17	chr14:32989600-32999600	Weak transcription	Fetal Brain Male	brain
18	chr14:32992600-32992800	Enhancers	NH-A	brain
19	chr14:32992600-32993200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:32992600-32995200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:32992800-32993000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:32992800-32993400	Enhancers	Left Ventricle	heart
23	chr14:32992800-32993800	Weak transcription	NH-A	brain
24	chr14:32992800-32995000	Enhancers	Brain Angular Gyrus	brain
25	chr14:32992800-32995000	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:32992800-32995200	Enhancers	Brain Anterior Caudate	brain
27	chr14:32992800-32995200	Enhancers	Brain Substantia Nigra	brain
28	chr14:32993000-32993800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:32993000-32995000	Enhancers	Brain Hippocampus Middle	brain
30	chr14:32993200-32993600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:32993400-32994000	Weak transcription	Left Ventricle	heart
32	chr14:32993400-32994400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:32993400-32994400	Enhancers	HUVEC	blood vessel
34	chr14:32993400-32995200	Enhancers	Hela-S3	cervix
35	chr14:32993600-32995000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:32993800-32994000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:32993800-32994200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:32993800-32994200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:32993800-32994400	Enhancers	NH-A	brain
40	chr14:32993800-32994800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:32993800-32995000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:32993800-32995000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:32993800-32995200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:32994000-32994200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:32994000-32994200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr14:32994000-32994200	Enhancers	Left Ventricle	heart
47	chr14:32994000-32994200	Enhancers	HSMMtube	muscle
48	chr14:32994000-32994600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:32994000-32994600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:32994000-32994800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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