Variant report

Variant	esv3396491
Chromosome Location	chr2:134480932-134482980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549254761	chr2:134481007-134481008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544384820	chr2:134481008-134481009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373329675	chr2:134481048-134481049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567553100	chr2:134481100-134481101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190821877	chr2:134481125-134481126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549489465	chr2:134481129-134481130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115462091	chr2:134481137-134481138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182053523	chr2:134481139-134481140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545178690	chr2:134481216-134481217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12162298	chr2:134481217-134481218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146394418	chr2:134481254-134481255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4597586	chr2:134481305-134481306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185203307	chr2:134481321-134481322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189608560	chr2:134481325-134481326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576325956	chr2:134481332-134481333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543607414	chr2:134481333-134481334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560150318	chr2:134481426-134481427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116373491	chr2:134481458-134481459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578009201	chr2:134481482-134481483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545165988	chr2:134481560-134481561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544636685	chr2:134481584-134481585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141143262	chr2:134481591-134481592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556154367	chr2:134481599-134481600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181252819	chr2:134481634-134481635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185306195	chr2:134481644-134481645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369670563	chr2:134481664-134481665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191593085	chr2:134481668-134481669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577568982	chr2:134481673-134481674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34979285	chr2:134481678-134481679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs60317898	chr2:134481679-134481680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10551286	chr2:134481780-134481781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35627393	chr2:134481801-134481802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150726469	chr2:134481843-134481844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547167897	chr2:134481910-134481911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369889781	chr2:134481995-134481996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183856100	chr2:134482039-134482040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544998554	chr2:134482070-134482071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536224164	chr2:134482099-134482100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139079274	chr2:134482107-134482108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374540442	chr2:134482148-134482149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569925285	chr2:134482193-134482194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537246385	chr2:134482194-134482195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79022159	chr2:134482233-134482234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531824548	chr2:134482260-134482261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576952174	chr2:134482362-134482363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545516092	chr2:134482372-134482373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76751641	chr2:134482450-134482451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78154872	chr2:134482471-134482472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149909389	chr2:134482491-134482492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11689024	chr2:134482495-134482496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134475800-134484600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:134478000-134484400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:134478000-134484400	Weak transcription	Osteobl	bone
4	chr2:134479400-134484200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:134479600-134484600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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