Variant report

Variant	nsv525931
Chromosome Location	chr2:78204327-78214766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-8	chr2:78208133-78208440	NONHSAT071839
2	lnc-LRRTM4-3	chr2:78214578-78215904	NONHSAT071835

Extended variants
information (count: 37 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556382269	chr2:78204638-78204639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574547452	chr2:78204641-78204642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555900170	chr2:78204651-78204652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1527177	chr2:78204652-78204653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1527176	chr2:78204706-78204707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75699080	chr2:78204729-78204730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578218415	chr2:78204730-78204731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540568076	chr2:78204776-78204777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552591233	chr2:78204797-78204798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572515087	chr2:78204809-78204810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541381768	chr2:78204817-78204818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372039825	chr2:78204841-78204842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574962616	chr2:78204868-78204869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79514126	chr2:78204937-78204938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564122254	chr2:78204942-78204943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533296459	chr2:78204970-78204971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192115005	chr2:78208134-78208135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs141415692	chr2:78208171-78208172	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569619797	chr2:78208191-78208192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs538841228	chr2:78208219-78208220	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs183816941	chr2:78208256-78208257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs565665473	chr2:78208275-78208276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs534599671	chr2:78208282-78208283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs35374271	chr2:78208305-78208306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs398080371	chr2:78208309-78208310	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs397715895	chr2:78208312-78208313	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs554584556	chr2:78208333-78208334	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs568122804	chr2:78208345-78208346	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs536999947	chr2:78208360-78208361	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs114555286	chr2:78208439-78208440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs561063791	chr2:78214651-78214652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs555456277	chr2:78214679-78214680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs529735348	chr2:78214691-78214692	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs1283551	chr2:78214725-78214726	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs140323901	chr2:78214732-78214733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs569520750	chr2:78214747-78214748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs1609077	chr2:78214766-78214767	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78204600-78205000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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