Variant report

Variant	esv1832946
Chromosome Location	chr3:133056682-133059396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1795097	chr3:133056682-133056683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7632905	chr3:133056708-133056709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188531733	chr3:133056718-133056719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562003677	chr3:133056750-133056751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181197825	chr3:133056780-133056781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71435450	chr3:133056849-133056850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144601353	chr3:133056912-133056913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533428685	chr3:133056931-133056932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147887112	chr3:133056942-133056943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78989072	chr3:133056963-133056964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73207729	chr3:133056983-133056984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185804212	chr3:133057095-133057096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575603266	chr3:133057122-133057123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568115443	chr3:133057125-133057126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139303764	chr3:133057131-133057132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149996605	chr3:133057166-133057167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570688477	chr3:133057194-133057195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539642597	chr3:133057220-133057221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552960079	chr3:133057222-133057223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573103901	chr3:133057247-133057248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145252855	chr3:133057265-133057266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555385140	chr3:133057273-133057274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575322248	chr3:133057295-133057296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544331988	chr3:133057328-133057329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564317444	chr3:133057349-133057350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190776440	chr3:133057363-133057364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11720441	chr3:133057377-133057378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78764966	chr3:133057399-133057400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529594600	chr3:133057477-133057478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547867682	chr3:133057481-133057482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561701445	chr3:133057482-133057483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147785823	chr3:133057496-133057497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374244895	chr3:133057497-133057498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530601666	chr3:133057502-133057503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552805751	chr3:133057567-133057568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550668889	chr3:133057576-133057577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1197279	chr3:133057597-133057598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539220340	chr3:133057636-133057637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546779169	chr3:133057709-133057710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181061035	chr3:133057710-133057711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187027118	chr3:133057749-133057750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113518437	chr3:133057785-133057786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375767127	chr3:133057829-133057830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575261854	chr3:133057962-133057963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537868964	chr3:133057971-133057972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535243442	chr3:133057992-133057993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182785090	chr3:133058021-133058022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557794366	chr3:133058036-133058037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578056488	chr3:133058057-133058058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201745691	chr3:133058103-133058104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133056400-133058800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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