Variant report

Variant	nsv822359
Chromosome Location	chr3:180068027-180069877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114724872	chr3:180068071-180068072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144121720	chr3:180068146-180068147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182100697	chr3:180068184-180068185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188868971	chr3:180068185-180068186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144018037	chr3:180068200-180068201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563933044	chr3:180068213-180068214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193208521	chr3:180068232-180068233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115358731	chr3:180068305-180068306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565840197	chr3:180068345-180068346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534660980	chr3:180068374-180068375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs950363	chr3:180068408-180068409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551377297	chr3:180068425-180068426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571180045	chr3:180068488-180068489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376972386	chr3:180068528-180068529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114190038	chr3:180068585-180068586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573819286	chr3:180068588-180068589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535961604	chr3:180068616-180068617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs950364	chr3:180068648-180068649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185210800	chr3:180068696-180068697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544984432	chr3:180068702-180068703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545430634	chr3:180068741-180068742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564893392	chr3:180068749-180068750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11705948	chr3:180068782-180068783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375445207	chr3:180068799-180068800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200218272	chr3:180068845-180068846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578169773	chr3:180068852-180068853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544126761	chr3:180068869-180068870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566665881	chr3:180068884-180068885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142731711	chr3:180068893-180068894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563729160	chr3:180068943-180068944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4404446	chr3:180068967-180068968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529443206	chr3:180068984-180068985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565433011	chr3:180069048-180069049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9851513	chr3:180069170-180069171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111811653	chr3:180069220-180069221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113791377	chr3:180069356-180069357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148647725	chr3:180069396-180069397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551340364	chr3:180069469-180069470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1402230	chr3:180069481-180069482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527910309	chr3:180069495-180069496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13065344	chr3:180069505-180069506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13065038	chr3:180069506-180069507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4634115	chr3:180069520-180069521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142097147	chr3:180069540-180069541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1402229	chr3:180069572-180069573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs13065215	chr3:180069609-180069610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1402228	chr3:180069611-180069612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536410621	chr3:180069632-180069633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557200604	chr3:180069661-180069662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553220072	chr3:180069662-180069663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180064800-180075800	Weak transcription	HMEC	breast
2	chr3:180065400-180075000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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