Variant report

Variant	nsv874318
Chromosome Location	chr2:76929095-76956302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1560 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1560 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12468393	chr2:76929095-76929096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145690947	chr2:76929117-76929118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565850488	chr2:76929128-76929129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564452897	chr2:76929131-76929132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573308450	chr2:76929132-76929133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138245184	chr2:76929150-76929151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74732476	chr2:76929163-76929164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547203182	chr2:76929167-76929168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565636291	chr2:76929175-76929176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143475363	chr2:76929200-76929201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549236649	chr2:76929201-76929202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192544580	chr2:76929210-76929211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149558890	chr2:76929256-76929257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574003887	chr2:76929260-76929261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538189901	chr2:76929263-76929264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556338479	chr2:76929264-76929265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577846513	chr2:76929268-76929269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545080729	chr2:76929284-76929285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373751025	chr2:76929290-76929291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576350861	chr2:76929334-76929335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560397110	chr2:76929343-76929344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572373765	chr2:76929347-76929348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375743485	chr2:76929351-76929352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370106235	chr2:76929385-76929386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182667109	chr2:76929408-76929409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550144634	chr2:76929419-76929420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565050112	chr2:76929442-76929443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187671713	chr2:76929465-76929466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60969049	chr2:76929466-76929467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59456358	chr2:76929467-76929468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536204556	chr2:76929472-76929473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188709220	chr2:76929481-76929482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201769993	chr2:76929486-76929487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11901077	chr2:76929487-76929488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58287818	chr2:76929488-76929489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556476704	chr2:76929515-76929516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36143360	chr2:76929540-76929541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538881204	chr2:76929551-76929552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113224164	chr2:76929589-76929590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554188696	chr2:76929603-76929604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545712275	chr2:76929609-76929610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563729250	chr2:76929612-76929613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13412306	chr2:76929617-76929618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543147147	chr2:76929620-76929621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538926926	chr2:76929626-76929627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554999628	chr2:76929675-76929676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576533578	chr2:76929679-76929680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543724382	chr2:76929705-76929706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565201601	chr2:76929732-76929733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79038605	chr2:76929758-76929759	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76928400-76934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:76934800-76935200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:76934800-76936000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:76936000-76938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:76937000-76937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:76938400-76939000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:76938400-76939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:76938600-76939000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:76938600-76939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:76955600-76956000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:76955600-76956200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:76955800-76956200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:76955800-76956200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:76956000-76957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:76956200-76957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:76956200-76957800	Weak transcription	H9 Cell Line	embryonic stem cell

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