Variant report

Variant	nsv979783
Chromosome Location	chr3:133408825-133413260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs113977484	chr3:133408966-133408967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs16840595	chr3:133409004-133409005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143291995	chr3:133409044-133409045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370954460	chr3:133409077-133409078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568129742	chr3:133409082-133409083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536873847	chr3:133409161-133409162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143672582	chr3:133409190-133409191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557150088	chr3:133409195-133409196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58689485	chr3:133409235-133409236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183403575	chr3:133409316-133409317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138270060	chr3:133409322-133409323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142454078	chr3:133409326-133409327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59787433	chr3:133409380-133409381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13325440	chr3:133409403-133409404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs2718809	chr3:133409418-133409419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186976019	chr3:133409428-133409429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57210390	chr3:133409454-133409455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533350639	chr3:133409464-133409465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547315539	chr3:133409479-133409480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560719114	chr3:133409484-133409485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528101446	chr3:133409535-133409536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61171184	chr3:133409605-133409606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568043723	chr3:133409633-133409634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139135616	chr3:133409663-133409664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375516566	chr3:133409668-133409669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2589267	chr3:133409669-133409670	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs570673395	chr3:133409681-133409682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141282626	chr3:133409718-133409719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552859065	chr3:133409719-133409720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182727355	chr3:133409750-133409751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543786637	chr3:133409754-133409755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555368619	chr3:133409786-133409787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575218675	chr3:133409811-133409812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34519945	chr3:133409835-133409836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150767073	chr3:133409851-133409852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567661483	chr3:133409856-133409857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138101999	chr3:133409863-133409864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540430840	chr3:133409874-133409875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560790756	chr3:133409877-133409878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200019994	chr3:133409878-133409879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs66903412	chr3:133409879-133409880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36033747	chr3:133409910-133409911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530424575	chr3:133409914-133409915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182976799	chr3:133409924-133409925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550656212	chr3:133409931-133409932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34375330	chr3:133409953-133409954	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2589269	chr3:133409977-133409978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs546359667	chr3:133410036-133410037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566306932	chr3:133410044-133410045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535391711	chr3:133410051-133410052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133407200-133409600	Weak transcription	Left Ventricle	heart
2	chr3:133407200-133410200	Weak transcription	HepG2	liver
3	chr3:133409600-133410400	Enhancers	Pancreas	Pancrea
4	chr3:133410200-133410400	Enhancers	Right Atrium	heart
5	chr3:133410200-133410800	Enhancers	HepG2	liver
6	chr3:133410800-133412000	Weak transcription	HepG2	liver
7	chr3:133411800-133430800	Weak transcription	Brain Angular Gyrus	brain
8	chr3:133412000-133415000	Enhancers	HepG2	liver
9	chr3:133412200-133437600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:133413000-133413200	Active TSS	Gastric	stomach
11	chr3:133413200-133423200	Weak transcription	Gastric	stomach

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