Variant report

Variant	nsv10052
Chromosome Location	chr2:78298028-78300969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:78300847..78302731-chr2:78308537..78310502,2	K562	blood:
2	chr2:78295743..78297764-chr2:78300068..78303067,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552064729	chr2:78298045-78298046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201983969	chr2:78298058-78298059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534756937	chr2:78298115-78298116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554650276	chr2:78298119-78298120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568065180	chr2:78298144-78298145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528186944	chr2:78298161-78298162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72921749	chr2:78298180-78298181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200053968	chr2:78298185-78298186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535715932	chr2:78298217-78298218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3030808	chr2:78298218-78298219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557368063	chr2:78298226-78298227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577455030	chr2:78298327-78298328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1370640	chr2:78298334-78298335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560180344	chr2:78298345-78298346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140954058	chr2:78298378-78298379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186993662	chr2:78298392-78298393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527404181	chr2:78298415-78298416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149765360	chr2:78298418-78298419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532459311	chr2:78298425-78298426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541088212	chr2:78298493-78298494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17014937	chr2:78298518-78298519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4853370	chr2:78298521-78298522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543424694	chr2:78298580-78298581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569056152	chr2:78298581-78298582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189503601	chr2:78298621-78298622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181045081	chr2:78298697-78298698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111683141	chr2:78298712-78298713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565694261	chr2:78298728-78298729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80342182	chr2:78298756-78298757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186078699	chr2:78298805-78298806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568207079	chr2:78298846-78298847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559184937	chr2:78298898-78298899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537184323	chr2:78298909-78298910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557059330	chr2:78298910-78298911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190365460	chr2:78298925-78298926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57037065	chr2:78298928-78298929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539710892	chr2:78298972-78298973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377286350	chr2:78298975-78298976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397978705	chr2:78298989-78298990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113246635	chr2:78299010-78299011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566651123	chr2:78299017-78299018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542440208	chr2:78299064-78299065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548916290	chr2:78299073-78299074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534024880	chr2:78299074-78299075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574562045	chr2:78299081-78299082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2033750	chr2:78299157-78299158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549066332	chr2:78299169-78299170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115944082	chr2:78299175-78299176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545730966	chr2:78299202-78299203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568983882	chr2:78299221-78299222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78296200-78305400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:78298000-78298800	Enhancers	Fetal Lung	lung

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