Variant report

Variant	esv3443280
Chromosome Location	chr3:146317812-146320210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537830633	chr3:146317822-146317823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376826944	chr3:146317844-146317845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137992056	chr3:146317859-146317860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574653004	chr3:146317917-146317918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542060114	chr3:146317924-146317925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16858584	chr3:146318000-146318001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184469901	chr3:146318025-146318026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374466260	chr3:146318045-146318046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545525284	chr3:146318094-146318095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563813558	chr3:146318098-146318099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531382576	chr3:146318115-146318116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543043257	chr3:146318121-146318122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374073599	chr3:146318151-146318152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561445669	chr3:146318174-146318175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530332787	chr3:146318176-146318177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370926969	chr3:146318198-146318199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374580089	chr3:146318199-146318200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200100738	chr3:146318211-146318212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371944540	chr3:146318248-146318249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9867955	chr3:146318263-146318264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs367993692	chr3:146318289-146318290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188009563	chr3:146318290-146318291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570955316	chr3:146318343-146318344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538295156	chr3:146318383-146318384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556284962	chr3:146318415-146318416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568414701	chr3:146318453-146318454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535400740	chr3:146318498-146318499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141008125	chr3:146318510-146318511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72988673	chr3:146318524-146318525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368732633	chr3:146318542-146318543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1849163	chr3:146318543-146318544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34906866	chr3:146318544-146318545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569818593	chr3:146318550-146318551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576067650	chr3:146318557-146318558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543459933	chr3:146318574-146318575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558999983	chr3:146318640-146318641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532146297	chr3:146318643-146318644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528850503	chr3:146318677-146318678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371367782	chr3:146318730-146318731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201562511	chr3:146318784-146318785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550951272	chr3:146318798-146318799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145031927	chr3:146318843-146318844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527937607	chr3:146318920-146318921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552811678	chr3:146318947-146318948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138863106	chr3:146319007-146319008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376324	chr3:146319029-146319030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114423584	chr3:146319058-146319059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551955487	chr3:146319059-146319060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72988675	chr3:146319097-146319098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141494465	chr3:146319098-146319099	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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146313400-146320600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:146316800-146321200	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:146317400-146318200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:146317800-146322000	Weak transcription	Placenta Amnion	Placenta Amnion

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