Variant report

Variant	nsv965426
Chromosome Location	chr3:161939923-161945517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187273132	chr3:161939925-161939926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116748685	chr3:161939938-161939939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369075190	chr3:161939944-161939945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558581559	chr3:161939992-161939993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537095089	chr3:161940014-161940015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79506134	chr3:161940039-161940040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77585625	chr3:161940045-161940046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553820686	chr3:161940050-161940051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574093133	chr3:161940078-161940079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535253940	chr3:161940112-161940113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145541665	chr3:161940161-161940162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575393237	chr3:161940201-161940202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113232320	chr3:161940277-161940278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375172504	chr3:161940348-161940349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369267134	chr3:161940349-161940350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564403701	chr3:161940358-161940359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553226215	chr3:161940375-161940376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577686756	chr3:161940424-161940425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540250045	chr3:161940490-161940491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560250313	chr3:161940491-161940492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139811500	chr3:161940553-161940554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1973309	chr3:161940559-161940560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113534404	chr3:161940611-161940612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563087632	chr3:161940622-161940623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531843250	chr3:161940682-161940683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557021271	chr3:161940692-161940693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571628732	chr3:161940711-161940712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527642731	chr3:161940718-161940719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575132326	chr3:161940724-161940725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542225909	chr3:161940737-161940738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547393528	chr3:161940765-161940766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567604489	chr3:161940780-161940781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200507823	chr3:161940781-161940782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556419510	chr3:161940791-161940792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569013352	chr3:161940837-161940838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538063481	chr3:161940856-161940857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371949716	chr3:161940857-161940858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201648985	chr3:161940862-161940863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9867096	chr3:161940863-161940864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572628134	chr3:161940888-161940889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192080968	chr3:161940889-161940890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376318171	chr3:161940894-161940895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11717772	chr3:161940916-161940917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs34787995	chr3:161940919-161940920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554393047	chr3:161940928-161940929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559506734	chr3:161940949-161940950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533402394	chr3:161940954-161940955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11717792	chr3:161940963-161940964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375677595	chr3:161940989-161940990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545211972	chr3:161941001-161941002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161937000-161942600	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:161937200-161942800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:161942000-161942800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:161942200-161942600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:161942200-161942800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:161942200-161943000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:161942200-161943000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:161942200-161943000	Enhancers	Osteobl	bone
9	chr3:161942400-161942800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:161942400-161943000	Enhancers	HMEC	breast
11	chr3:161942600-161943000	Enhancers	Colon Smooth Muscle	Colon
12	chr3:161942800-161943400	Enhancers	Rectal Smooth Muscle	rectum

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