Variant report

Variant	nsv961693
Chromosome Location	chr2:77727205-77733855
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	chr2:77726699..77728852-chr2:77733118..77735865,2	MCF-7	breast:
2	chr2:77726699..77728852-chr2:77733118..77735865,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG1B-8	chr2:77733047-77733243	NONHSAT071827

Extended variants
information (count: 149 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536437917	chr2:77729846-77729847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556373481	chr2:77729897-77729898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576252134	chr2:77729934-77729935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545263206	chr2:77729935-77729936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544957419	chr2:77729938-77729939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577520070	chr2:77729951-77729952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149234567	chr2:77729977-77729978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550589844	chr2:77730007-77730008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2204916	chr2:77730014-77730015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs542824803	chr2:77730051-77730052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367757763	chr2:77730054-77730055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201267293	chr2:77730079-77730080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140168011	chr2:77730080-77730081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562642658	chr2:77730107-77730108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143605410	chr2:77730111-77730112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112405824	chr2:77730128-77730129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186490482	chr2:77730189-77730190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1344257	chr2:77730225-77730226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs62159463	chr2:77730243-77730244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55847661	chr2:77730247-77730248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536374990	chr2:77730278-77730279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368979145	chr2:77730288-77730289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1344256	chr2:77730308-77730309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569875495	chr2:77730336-77730337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541124751	chr2:77730337-77730338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570671322	chr2:77730360-77730361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368180534	chr2:77730361-77730362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539226874	chr2:77730421-77730422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148059623	chr2:77730441-77730442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572741670	chr2:77730508-77730509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530907811	chr2:77730534-77730535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533541703	chr2:77730539-77730540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1344255	chr2:77730541-77730542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370551881	chr2:77730547-77730548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573703331	chr2:77730548-77730549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189737051	chr2:77730569-77730570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376606203	chr2:77730574-77730575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182683643	chr2:77730684-77730685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35286009	chr2:77730722-77730723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188198446	chr2:77730725-77730726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192785027	chr2:77730728-77730729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13418152	chr2:77730773-77730774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141755848	chr2:77730778-77730779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560912984	chr2:77730790-77730791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34827946	chr2:77730823-77730824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147189317	chr2:77730824-77730825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569862889	chr2:77730825-77730826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538850917	chr2:77730865-77730866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10198058	chr2:77730954-77730955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74338442	chr2:77730988-77730989	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
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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77729800-77730200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:77729800-77730400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:77729800-77730400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:77729800-77730400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:77729800-77730400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:77729800-77730600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:77729800-77730800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:77730000-77730400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:77730400-77739200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:77730400-77739400	Weak transcription	Fetal Brain Male	brain
11	chr2:77730400-77740200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:77730800-77737000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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