Variant report

Variant	nsv1014458
Chromosome Location	chr3:162623885-162634303
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	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
2	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-2	chr3:162631870-162632022	NONHSAT093026

Extended variants
information (count: 174 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530820592	chr3:162630219-162630220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550561605	chr3:162630226-162630227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6785676	chr3:162630290-162630291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532954188	chr3:162630294-162630295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549351945	chr3:162630305-162630306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs206869	chr3:162630315-162630316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536086380	chr3:162630344-162630345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150389119	chr3:162630384-162630385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549621550	chr3:162630410-162630411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138678253	chr3:162630411-162630412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538531731	chr3:162630423-162630424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80140993	chr3:162630444-162630445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577998899	chr3:162630453-162630454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73019598	chr3:162630462-162630463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567796430	chr3:162630485-162630486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553876023	chr3:162630515-162630516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570724370	chr3:162630532-162630533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147009435	chr3:162630533-162630534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200695768	chr3:162630575-162630576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116623487	chr3:162630577-162630578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542678604	chr3:162630606-162630607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs66649820	chr3:162630677-162630678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538805210	chr3:162630696-162630697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557220189	chr3:162630706-162630707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34750600	chr3:162630716-162630717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575300029	chr3:162630718-162630719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140472001	chr3:162630754-162630755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199664793	chr3:162630755-162630756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542595517	chr3:162630844-162630845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544541999	chr3:162630883-162630884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564218153	chr3:162630973-162630974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532994781	chr3:162630987-162630988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546599399	chr3:162631014-162631015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73019601	chr3:162631028-162631029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150626484	chr3:162631035-162631036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529006000	chr3:162631065-162631066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141966779	chr3:162631071-162631072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569479128	chr3:162631095-162631096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531799832	chr3:162631101-162631102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146322526	chr3:162631103-162631104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139636236	chr3:162631110-162631111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534193286	chr3:162631195-162631196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553763628	chr3:162631275-162631276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73021303	chr3:162631313-162631314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373401088	chr3:162631324-162631325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186510470	chr3:162631344-162631345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369660866	chr3:162631346-162631347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77822758	chr3:162631353-162631354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199864784	chr3:162631354-162631355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144714141	chr3:162631355-162631356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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