Variant report

Variant	nsv10053
Chromosome Location	chr2:78632755-78636758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528140578	chr2:78634033-78634034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186989810	chr2:78634041-78634042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546325790	chr2:78634117-78634118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138070081	chr2:78634134-78634135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534838790	chr2:78634159-78634160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371952894	chr2:78634162-78634163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554649890	chr2:78634173-78634174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75244234	chr2:78634175-78634176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114706324	chr2:78634176-78634177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192241485	chr2:78634204-78634205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76758044	chr2:78634205-78634206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370636484	chr2:78634215-78634216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6714438	chr2:78634232-78634233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550870199	chr2:78634278-78634279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184393157	chr2:78634307-78634308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560028156	chr2:78634335-78634336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370454478	chr2:78634356-78634357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527377429	chr2:78634375-78634376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143653179	chr2:78634408-78634409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147187776	chr2:78634409-78634410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529663911	chr2:78634414-78634415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187458099	chr2:78634427-78634428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574802316	chr2:78634446-78634447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569917919	chr2:78634466-78634467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532313992	chr2:78634478-78634479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551951617	chr2:78634493-78634494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565493857	chr2:78634505-78634506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1606996	chr2:78634533-78634534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79058070	chr2:78634536-78634537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568481603	chr2:78634574-78634575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548364798	chr2:78634595-78634596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143909111	chr2:78634606-78634607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577455934	chr2:78634640-78634641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113149217	chr2:78634645-78634646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546566399	chr2:78634656-78634657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144258564	chr2:78634677-78634678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573434078	chr2:78634678-78634679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192597005	chr2:78634721-78634722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62166119	chr2:78634728-78634729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377148758	chr2:78634743-78634744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148718449	chr2:78634870-78634871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534299636	chr2:78634892-78634893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576919775	chr2:78634921-78634922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529787190	chr2:78634965-78634966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543398290	chr2:78634966-78634967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563186095	chr2:78634987-78634988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372619161	chr2:78634991-78634992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185663075	chr2:78634999-78635000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142251170	chr2:78635004-78635005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189347462	chr2:78635117-78635118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78634000-78643200	Weak transcription	K562	blood
2	chr2:78634200-78643600	Weak transcription	HepG2	liver
3	chr2:78635400-78635800	Enhancers	Fetal Muscle Trunk	muscle

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