Variant report

Variant	esv1808678
Chromosome Location	chr3:162763073-162769007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9837398	chr3:162763073-162763074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571171085	chr3:162763081-162763082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536459695	chr3:162763082-162763083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9875558	chr3:162763083-162763084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138661874	chr3:162763085-162763086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572922402	chr3:162763106-162763107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535435251	chr3:162763137-162763138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561863375	chr3:162763145-162763146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201601558	chr3:162763159-162763160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9837575	chr3:162763164-162763165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9875720	chr3:162763165-162763166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555473347	chr3:162763167-162763168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9837583	chr3:162763172-162763173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543646571	chr3:162763189-162763190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554892532	chr3:162763203-162763204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186004625	chr3:162763227-162763228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79550931	chr3:162763229-162763230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143802077	chr3:162763230-162763231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528123936	chr3:162763271-162763272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147248365	chr3:162763338-162763339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78322966	chr3:162763348-162763349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561808479	chr3:162763353-162763354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62396447	chr3:162763400-162763401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550603715	chr3:162763407-162763408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192379397	chr3:162763415-162763416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140768831	chr3:162763472-162763473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546915255	chr3:162763478-162763479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144770517	chr3:162763499-162763500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34764964	chr3:162763505-162763506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555336083	chr3:162763513-162763514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115581034	chr3:162763560-162763561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537965068	chr3:162763588-162763589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544433446	chr3:162763610-162763611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558200594	chr3:162763657-162763658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576987950	chr3:162763681-162763682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545959015	chr3:162763704-162763705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6548362	chr3:162763713-162763714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573167121	chr3:162763718-162763719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200162560	chr3:162763738-162763739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs66739395	chr3:162763739-162763740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10542340	chr3:162763741-162763742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201015778	chr3:162763743-162763744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144781321	chr3:162763760-162763761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562889573	chr3:162763762-162763763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564132643	chr3:162763818-162763819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565328366	chr3:162763823-162763824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543996581	chr3:162763840-162763841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564184916	chr3:162763858-162763859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148568865	chr3:162763867-162763868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4858903	chr3:162763881-162763882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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
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
Bladder cancer	21909424	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162741000-162765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162762000-162763200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:162762600-162763400	Enhancers	Adipose Nuclei	Adipose
4	chr3:162762600-162764000	Enhancers	Dnd41	blood
5	chr3:162764000-162764400	Flanking Active TSS	Dnd41	blood
6	chr3:162764400-162765000	Enhancers	Dnd41	blood
7	chr3:162765000-162769000	Weak transcription	Dnd41	blood
8	chr3:162765600-162766000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:162769000-162770200	Enhancers	Dnd41	blood

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