Variant report

Variant	nsv961792
Chromosome Location	chr2:72515945-72518734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPR-3	chr2:72515914-72516239	NONHSAT071576

Extended variants
information (count: 82 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182382406	chr2:72516004-72516005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs75089953	chr2:72516125-72516126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs563421845	chr2:72516141-72516142	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs530877307	chr2:72516142-72516143	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs571285676	chr2:72516182-72516183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187844483	chr2:72516184-72516185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs145829874	chr2:72516243-72516244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527718578	chr2:72516253-72516254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371902080	chr2:72516275-72516276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62149274	chr2:72516283-72516284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376364816	chr2:72516285-72516286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547262290	chr2:72516302-72516303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147825675	chr2:72516334-72516335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs719117	chr2:72516353-72516354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs141332071	chr2:72516358-72516359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569784346	chr2:72516385-72516386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537103722	chr2:72516395-72516396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs719120	chr2:72516421-72516422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371724655	chr2:72516434-72516435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576772834	chr2:72516439-72516440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535801100	chr2:72516440-72516441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs719119	chr2:72516574-72516575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193222237	chr2:72516575-72516576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369044925	chr2:72516617-72516618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143625641	chr2:72516669-72516670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386647288	chr2:72516701-72516702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs719118	chr2:72516703-72516704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567810013	chr2:72516720-72516721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190063479	chr2:72516721-72516722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545887264	chr2:72516784-72516785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192924709	chr2:72516811-72516812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564180221	chr2:72516845-72516846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528470550	chr2:72516861-72516862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183957539	chr2:72516904-72516905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562425895	chr2:72516907-72516908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371710705	chr2:72516916-72516917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544512838	chr2:72516949-72516950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115089140	chr2:72516957-72516958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148056550	chr2:72517055-72517056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569427430	chr2:72517058-72517059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537189917	chr2:72517079-72517080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552294957	chr2:72517093-72517094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570390687	chr2:72517105-72517106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531931795	chr2:72517163-72517164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141430535	chr2:72517225-72517226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10207299	chr2:72517296-72517297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370066470	chr2:72517380-72517381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150408543	chr2:72517423-72517424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188730734	chr2:72517434-72517435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550425289	chr2:72517497-72517498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72516200-72517400	Enhancers	NHDF-Ad	bronchial
2	chr2:72516800-72517000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:72516800-72517000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:72516800-72517000	Enhancers	Osteobl	bone
5	chr2:72516800-72517400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:72517000-72518200	Weak transcription	Osteobl	bone
7	chr2:72517000-72518600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:72517000-72520600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:72517400-72521000	Weak transcription	NHDF-Ad	bronchial
10	chr2:72517800-72520600	Enhancers	A549	lung
11	chr2:72518200-72518600	Enhancers	Osteobl	bone
12	chr2:72518200-72518800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:72518200-72518800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:72518200-72518800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:72518200-72519000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:72518400-72518800	Enhancers	Fetal Lung	lung
17	chr2:72518600-72518800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:72518600-72519200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:72518600-72520600	Weak transcription	Osteobl	bone

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