Variant report

Variant	nsv520214
Chromosome Location	chr14:22328931-22330430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs909074	chr14:22328931-22328932	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182763685	chr14:22328938-22328939	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577916861	chr14:22328940-22328941	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543575876	chr14:22328966-22328967	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538866854	chr14:22328977-22328978	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17182853	chr14:22329006-22329007	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs575721707	chr14:22329023-22329024	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544401860	chr14:22329028-22329029	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554969616	chr14:22329029-22329030	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574896025	chr14:22329030-22329031	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574717798	chr14:22329041-22329042	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540883842	chr14:22329048-22329049	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117099323	chr14:22329076-22329077	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188874682	chr14:22329090-22329091	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193105899	chr14:22329100-22329101	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546414270	chr14:22329136-22329137	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368559932	chr14:22329149-22329150	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184215977	chr14:22329210-22329211	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575869327	chr14:22329213-22329214	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562857432	chr14:22329223-22329224	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145057677	chr14:22329248-22329249	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75553048	chr14:22329310-22329311	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138845356	chr14:22329321-22329322	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2280752	chr14:22329369-22329370	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs111942359	chr14:22329392-22329393	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546479965	chr14:22329416-22329417	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3215383	chr14:22329417-22329418	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189020209	chr14:22329467-22329468	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2280753	chr14:22329474-22329475	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564363790	chr14:22329479-22329480	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538433779	chr14:22329499-22329500	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142031158	chr14:22329551-22329552	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192214201	chr14:22329586-22329587	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146257082	chr14:22329607-22329608	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555105925	chr14:22329611-22329612	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574885503	chr14:22329612-22329613	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117870657	chr14:22329672-22329673	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139136259	chr14:22329743-22329744	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78639450	chr14:22329808-22329809	Bivalent Enhancer Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546193295	chr14:22329834-22329835	Bivalent Enhancer Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183910983	chr14:22329844-22329845	Bivalent Enhancer Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188694306	chr14:22329914-22329915	Bivalent Enhancer Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551101976	chr14:22329951-22329952	Bivalent Enhancer Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543900026	chr14:22329955-22329956	Bivalent Enhancer Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs118129007	chr14:22329961-22329962	Bivalent Enhancer Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149545234	chr14:22330095-22330096	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546216599	chr14:22330096-22330097	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199858902	chr14:22330108-22330109	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3040609	chr14:22330109-22330110	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs33955295	chr14:22330110-22330111	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	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
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Barrett''s syndrome	19417022	CNVD
Lysinuric protein intolerance	18716612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22321000-22330000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:22321400-22340800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:22323200-22337000	Weak transcription	Fetal Thymus	thymus
4	chr14:22326800-22331600	Weak transcription	Thymus	Thymus
5	chr14:22328400-22329600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:22328400-22333400	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr14:22328600-22332400	Active TSS	Primary T cells from cord blood	blood
8	chr14:22328600-22332600	Active TSS	Primary T cells fromperipheralblood	blood
9	chr14:22328800-22329000	Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr14:22328800-22329600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:22328800-22334000	Weak transcription	HUVEC	blood vessel
12	chr14:22329000-22329400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:22329400-22330400	Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr14:22329400-22330400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:22329600-22330400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:22329600-22331800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:22329800-22330000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:22330000-22331200	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr14:22330400-22332000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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