Variant report

Variant	esv3369707
Chromosome Location	chr3:163462558-163466456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142816990	chr3:163462620-163462621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554745680	chr3:163462621-163462622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541655885	chr3:163462649-163462650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565019004	chr3:163462707-163462708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2201063	chr3:163462742-163462743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574596776	chr3:163462836-163462837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543165096	chr3:163462880-163462881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530632854	chr3:163462881-163462882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541883720	chr3:163462890-163462891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7651976	chr3:163462905-163462906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs80312761	chr3:163462907-163462908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577278787	chr3:163462939-163462940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76320577	chr3:163462942-163462943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369103499	chr3:163462968-163462969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528720724	chr3:163463018-163463019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548355582	chr3:163463026-163463027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4627755	chr3:163463086-163463087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1602472	chr3:163463095-163463096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550148354	chr3:163463111-163463112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531628556	chr3:163463115-163463116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550302675	chr3:163463173-163463174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374172612	chr3:163463174-163463175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139801770	chr3:163463206-163463207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1602471	chr3:163463211-163463212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149766086	chr3:163463262-163463263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535560097	chr3:163463279-163463280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182931120	chr3:163463289-163463290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74941526	chr3:163463328-163463329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545933231	chr3:163463331-163463332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534849661	chr3:163463370-163463371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553153116	chr3:163463379-163463380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547485934	chr3:163463395-163463396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145733100	chr3:163463426-163463427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148531483	chr3:163463459-163463460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565758606	chr3:163463543-163463544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2365143	chr3:163463561-163463562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537161013	chr3:163463566-163463567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556969074	chr3:163463567-163463568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142848749	chr3:163463590-163463591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs36086248	chr3:163463594-163463595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187954067	chr3:163463609-163463610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573175907	chr3:163463632-163463633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542087996	chr3:163463674-163463675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114914069	chr3:163463688-163463689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79173671	chr3:163463721-163463722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146577655	chr3:163463737-163463738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs866942	chr3:163463759-163463760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550799935	chr3:163463787-163463788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564601553	chr3:163463790-163463791	Enhancers	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
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
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163462600-163463800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:163462800-163463600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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