Variant report

Variant	nsv592444
Chromosome Location	chr3:164182722-164187996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:215 , 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	rs1708505	chr3:164182722-164182723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71904697	chr3:164182753-164182754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3040792	chr3:164182756-164182757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200068817	chr3:164182757-164182758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527789434	chr3:164182789-164182790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570583103	chr3:164182791-164182792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186541168	chr3:164182827-164182828	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138153581	chr3:164182830-164182831	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552220645	chr3:164182867-164182868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs552890146	chr3:164182891-164182892	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs137894806	chr3:164182912-164182913	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1708504	chr3:164182926-164182927	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149491727	chr3:164182927-164182928	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114102690	chr3:164182937-164182938	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs143937515	chr3:164183035-164183036	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557403312	chr3:164183042-164183043	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549889501	chr3:164183059-164183060	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369028029	chr3:164183095-164183096	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191208180	chr3:164183126-164183127	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1708503	chr3:164183127-164183128	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138690518	chr3:164183148-164183149	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541828870	chr3:164183149-164183150	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1708502	chr3:164183209-164183210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1656096	chr3:164183223-164183224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550439011	chr3:164183252-164183253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568223927	chr3:164183277-164183278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1708501	chr3:164183283-164183284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369039671	chr3:164183332-164183333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533006980	chr3:164183383-164183384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181890699	chr3:164183410-164183411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566439237	chr3:164183418-164183419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535328899	chr3:164183427-164183428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565642638	chr3:164183452-164183453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548584630	chr3:164183461-164183462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373364183	chr3:164183528-164183529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185437268	chr3:164183553-164183554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537436798	chr3:164183555-164183556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557212498	chr3:164183559-164183560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77738569	chr3:164183569-164183570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557863051	chr3:164183599-164183600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1579579	chr3:164183626-164183627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369746069	chr3:164183642-164183643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1579578	chr3:164183653-164183654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1579577	chr3:164183719-164183720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575080305	chr3:164183781-164183782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575173062	chr3:164183789-164183790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1656094	chr3:164183828-164183829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563842079	chr3:164183830-164183831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189772112	chr3:164183883-164183884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553765633	chr3:164183896-164183897	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164179000-164182800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:164179200-164182800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:164181400-164182800	Weak transcription	A549	lung
4	chr3:164182800-164183200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:164182800-164183200	Flanking Active TSS	A549	lung
6	chr3:164182800-164184000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:164183200-164186200	Enhancers	A549	lung
8	chr3:164184000-164184400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:164184400-164185000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:164184800-164185200	Enhancers	Liver	Liver
11	chr3:164185000-164193800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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