Variant report

Variant	nsv961694
Chromosome Location	chr2:78370102-78402523
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-8	chr2:78371022-78371323	ucscGeneNc_uc002snu_2

Extended variants
information (count: 228 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76405405	chr2:78371041-78371042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs559868107	chr2:78371053-78371054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs529076141	chr2:78371107-78371108	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs138685983	chr2:78371187-78371188	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs569318606	chr2:78371221-78371222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs373587171	chr2:78371223-78371224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs189437701	chr2:78371225-78371226	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs537650252	chr2:78371245-78371246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs555897482	chr2:78371263-78371264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs562587606	chr2:78371823-78371824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147443301	chr2:78371867-78371868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56928061	chr2:78371873-78371874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181309610	chr2:78372011-78372012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185856708	chr2:78372054-78372055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572382393	chr2:78372064-78372065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10200905	chr2:78372120-78372121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567940543	chr2:78372139-78372140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536993634	chr2:78372158-78372159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556711323	chr2:78372190-78372191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564773002	chr2:78372233-78372234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570166984	chr2:78372242-78372243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148479284	chr2:78372249-78372250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557590284	chr2:78372250-78372251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577533197	chr2:78372262-78372263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539827633	chr2:78372267-78372268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190227462	chr2:78372351-78372352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141764860	chr2:78372379-78372380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375211822	chr2:78372413-78372414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532002642	chr2:78372424-78372425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115133963	chr2:78372437-78372438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562661658	chr2:78372438-78372439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550413912	chr2:78372462-78372463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576158873	chr2:78372486-78372487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10201311	chr2:78372507-78372508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565249234	chr2:78372561-78372562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527819470	chr2:78372634-78372635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs10189236	chr2:78372635-78372636	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561309220	chr2:78372681-78372682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77007303	chr2:78372689-78372690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs10201546	chr2:78372731-78372732	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369779726	chr2:78372757-78372758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372684817	chr2:78372774-78372775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570203588	chr2:78372778-78372779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538875519	chr2:78372779-78372780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs115532324	chr2:78372790-78372791	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570986404	chr2:78372795-78372796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139551746	chr2:78372798-78372799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576410470	chr2:78372802-78372803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553342043	chr2:78372869-78372870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs369983469	chr2:78372879-78372880	ZNF genes & repeats	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78371800-78372800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:78372600-78374000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:78372800-78374800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:78374400-78374600	Active TSS	Spleen	Spleen
5	chr2:78374400-78374800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:78374400-78375000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:78374600-78374800	Flanking Active TSS	Spleen	Spleen
8	chr2:78385400-78385800	Enhancers	Brain Substantia Nigra	brain
9	chr2:78385600-78386400	Enhancers	Brain Hippocampus Middle	brain
10	chr2:78389000-78389400	Active TSS	Hela-S3	cervix
11	chr2:78389000-78390200	Enhancers	HepG2	liver

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