Variant report

Variant	nsv515527
Chromosome Location	chr2:76939575-76956302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 652 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13415879	chr2:76939575-76939576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368032081	chr2:76939578-76939579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566428220	chr2:76939679-76939680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533778470	chr2:76939681-76939682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138524113	chr2:76939686-76939687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371855754	chr2:76939718-76939719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533573506	chr2:76939727-76939728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191064081	chr2:76939759-76939760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536173289	chr2:76939811-76939812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557271806	chr2:76939827-76939828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557255586	chr2:76939835-76939836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17013050	chr2:76939855-76939856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141880734	chr2:76939861-76939862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74830665	chr2:76939867-76939868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543099428	chr2:76939907-76939908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572863329	chr2:76939914-76939915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540224917	chr2:76939915-76939916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373976927	chr2:76939961-76939962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144592828	chr2:76940008-76940009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111568030	chr2:76940032-76940033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529155298	chr2:76940057-76940058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183184336	chr2:76940060-76940061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563114328	chr2:76940127-76940128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186494340	chr2:76940189-76940190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554187469	chr2:76940204-76940205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191801643	chr2:76940208-76940209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545689617	chr2:76940209-76940210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72813392	chr2:76940247-76940248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566563043	chr2:76940260-76940261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148459209	chr2:76940262-76940263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544127525	chr2:76940263-76940264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10520158	chr2:76940274-76940275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs13432471	chr2:76940314-76940315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141720032	chr2:76940359-76940360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150851504	chr2:76940389-76940390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111962065	chr2:76940401-76940402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72813393	chr2:76940403-76940404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183197304	chr2:76940415-76940416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139931619	chr2:76940418-76940419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557970590	chr2:76940448-76940449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187707105	chr2:76940461-76940462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147067143	chr2:76940470-76940471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386647527	chr2:76940478-76940479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111419412	chr2:76940479-76940480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192552093	chr2:76940487-76940488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77509748	chr2:76940496-76940497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182151174	chr2:76940502-76940503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562809859	chr2:76940516-76940517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187961349	chr2:76940528-76940529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545218462	chr2:76940534-76940535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:76955600-76956000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:76955600-76956200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:76955800-76956200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:76955800-76956200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:76956000-76957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:76956200-76957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:76956200-76957800	Weak transcription	H9 Cell Line	embryonic stem cell

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