Variant report

Variant	esv3330942
Chromosome Location	chr3:110517962-110521260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74415866	chr3:110517985-110517986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533534593	chr3:110518073-110518074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140360021	chr3:110518142-110518143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566555076	chr3:110518155-110518156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150353906	chr3:110518233-110518234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9831911	chr3:110518299-110518300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562047246	chr3:110518316-110518317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187602276	chr3:110518411-110518412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192421857	chr3:110518430-110518431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577538481	chr3:110518432-110518433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77150005	chr3:110518476-110518477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553587092	chr3:110518510-110518511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572993125	chr3:110518538-110518539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573657476	chr3:110518540-110518541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542007927	chr3:110518593-110518594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562218804	chr3:110518608-110518609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112924300	chr3:110518624-110518625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200223710	chr3:110518626-110518627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374013684	chr3:110518645-110518646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564413998	chr3:110518653-110518654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149597689	chr3:110518666-110518667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200971526	chr3:110518673-110518674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146532172	chr3:110518704-110518705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547205773	chr3:110518748-110518749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560713333	chr3:110518764-110518765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544237382	chr3:110518768-110518769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113717053	chr3:110518770-110518771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143005010	chr3:110518853-110518854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183370387	chr3:110518889-110518890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376061306	chr3:110518894-110518895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377757162	chr3:110519001-110519002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147447058	chr3:110519037-110519038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115411802	chr3:110519064-110519065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375268055	chr3:110519076-110519077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533146243	chr3:110519077-110519078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113297549	chr3:110519080-110519081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143656201	chr3:110519178-110519179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148590627	chr3:110519196-110519197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73220851	chr3:110519229-110519230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187351060	chr3:110519262-110519263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560261497	chr3:110519287-110519288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141990634	chr3:110519298-110519299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546801663	chr3:110519299-110519300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527518460	chr3:110519311-110519312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566575616	chr3:110519321-110519322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555548089	chr3:110519324-110519325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575719552	chr3:110519366-110519367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528553458	chr3:110519413-110519414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558223340	chr3:110519461-110519462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530139667	chr3:110519507-110519508	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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Burkitt''s lymphoma	20823134	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110517200-110518200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:110517800-110519200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:110518200-110519000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:110518200-110519000	Enhancers	Fetal Heart	heart
5	chr3:110519000-110521600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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