Variant report

Variant	nsv10049
Chromosome Location	chr2:77975296-77988580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 350 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146800293	chr2:77975312-77975313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567531661	chr2:77975344-77975345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112861017	chr2:77975371-77975372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550265170	chr2:77975379-77975380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570286109	chr2:77975381-77975382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539190723	chr2:77975408-77975409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185520899	chr2:77975413-77975414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189558717	chr2:77975416-77975417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538650480	chr2:77975428-77975429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141258867	chr2:77975429-77975430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564121994	chr2:77975434-77975435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182142759	chr2:77975439-77975440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200866174	chr2:77975455-77975456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186684856	chr2:77975464-77975465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563149234	chr2:77975494-77975495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192410931	chr2:77975497-77975498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542328197	chr2:77975499-77975500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10186252	chr2:77975562-77975563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575833741	chr2:77975615-77975616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183137059	chr2:77975620-77975621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185132664	chr2:77975621-77975622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140508942	chr2:77975656-77975657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189547109	chr2:77975697-77975698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1552444	chr2:77975734-77975735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs74354022	chr2:77975811-77975812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374498587	chr2:77975829-77975830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550303330	chr2:77975843-77975844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570126123	chr2:77975891-77975892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528230897	chr2:77975930-77975931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546684999	chr2:77975948-77975949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532644894	chr2:77975953-77975954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182528134	chr2:77975987-77975988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557759228	chr2:77975988-77975989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114589763	chr2:77976006-77976007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554927292	chr2:77976015-77976016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566943642	chr2:77976036-77976037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144539124	chr2:77976043-77976044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368059264	chr2:77976077-77976078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188439605	chr2:77976078-77976079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34786720	chr2:77976099-77976100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34092865	chr2:77976101-77976102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575771801	chr2:77976138-77976139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544700467	chr2:77976184-77976185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558751288	chr2:77976201-77976202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572112591	chr2:77976224-77976225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192665557	chr2:77976270-77976271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564753842	chr2:77976286-77976287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560980665	chr2:77976324-77976325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11126634	chr2:77976331-77976332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183786776	chr2:77976358-77976359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77975200-77975600	Weak transcription	HepG2	liver
2	chr2:77975200-77980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:77975600-77976000	Enhancers	HepG2	liver
4	chr2:77977200-77977600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:77979400-77980000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:77980000-77980800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:77980400-77980600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:77980600-77980800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:77980600-77981400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:77980600-77981400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:77980600-77981400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:77980600-77981400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr2:77980600-77981400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:77980600-77981600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:77980600-77981600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:77980800-77981200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr2:77980800-77981400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:77980800-77981400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr2:77980800-77981400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:77980800-77981400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:77980800-77981600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:77980800-77981600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:77980800-77981600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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