Variant report

Variant	esv12869
Chromosome Location	chr3:161808602-161816680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537931907	chr3:161812017-161812018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549091313	chr3:161812030-161812031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557535862	chr3:161812063-161812064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577590185	chr3:161812067-161812068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147141260	chr3:161812068-161812069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71314078	chr3:161812095-161812096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539798633	chr3:161812153-161812154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75825262	chr3:161812162-161812163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114741840	chr3:161812176-161812177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572599000	chr3:161812185-161812186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573974868	chr3:161812190-161812191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186332799	chr3:161812192-161812193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9819073	chr3:161812201-161812202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs56400336	chr3:161812225-161812226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs367840419	chr3:161812305-161812306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545505576	chr3:161812313-161812314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377095766	chr3:161812325-161812326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188044741	chr3:161812337-161812338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9290111	chr3:161812340-161812341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12638307	chr3:161812348-161812349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368590331	chr3:161812352-161812353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4465957	chr3:161812412-161812413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549999072	chr3:161812470-161812471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114930305	chr3:161812486-161812487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538830291	chr3:161812500-161812501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4355296	chr3:161812514-161812515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139108473	chr3:161812519-161812520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377130157	chr3:161812532-161812533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112113824	chr3:161812553-161812554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4355297	chr3:161812570-161812571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148822474	chr3:161812592-161812593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536563982	chr3:161812628-161812629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4468993	chr3:161812637-161812638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144056457	chr3:161812649-161812650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544834661	chr3:161812661-161812662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4508798	chr3:161812669-161812670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4355298	chr3:161812694-161812695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541520465	chr3:161812703-161812704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560933581	chr3:161812724-161812725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12638402	chr3:161812735-161812736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550086098	chr3:161812753-161812754	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161812000-161812600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:161812200-161812600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:161812400-161812800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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