Variant report

Variant	esv3424687
Chromosome Location	chr2:133677382-133679480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193056282	chr2:133677419-133677420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148485880	chr2:133677436-133677437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115917518	chr2:133677541-133677542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570520990	chr2:133677552-133677553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534864521	chr2:133677604-133677605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185184108	chr2:133677660-133677661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533648169	chr2:133677711-133677712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11461871	chr2:133677712-133677713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397710099	chr2:133677719-133677720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75546095	chr2:133677721-133677722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545742324	chr2:133677729-133677730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58438002	chr2:133677824-133677825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574818256	chr2:133677843-133677844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533526781	chr2:133677963-133677964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118121512	chr2:133677992-133677993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141778898	chr2:133678005-133678006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554968348	chr2:133678108-133678109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576309638	chr2:133678167-133678168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368019214	chr2:133678171-133678172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146007901	chr2:133678194-133678195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371454572	chr2:133678232-133678233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376627816	chr2:133678233-133678234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13014801	chr2:133678269-133678270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577715276	chr2:133678274-133678275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5009087	chr2:133678275-133678276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28620688	chr2:133678292-133678293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5834338	chr2:133678293-133678294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376314178	chr2:133678294-133678295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60892828	chr2:133678304-133678305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7424114	chr2:133678306-133678307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs5009088	chr2:133678318-133678319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541253381	chr2:133678320-133678321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7422466	chr2:133678328-133678329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193144996	chr2:133678336-133678337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375677098	chr2:133678344-133678345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374567015	chr2:133678345-133678346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13009534	chr2:133678346-133678347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201225908	chr2:133678348-133678349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201692015	chr2:133678352-133678353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57202596	chr2:133678354-133678355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56057321	chr2:133678356-133678357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546290917	chr2:133678358-133678359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60039926	chr2:133678360-133678361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188271478	chr2:133678362-133678363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200961076	chr2:133678366-133678367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181148323	chr2:133678370-133678371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185348900	chr2:133678373-133678374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189577623	chr2:133678374-133678375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58608850	chr2:133678376-133678377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181623703	chr2:133678378-133678379	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
Breast cancer	22522925	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133667200-133681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133673000-133681000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:133673600-133688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:133676400-133677800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:133676800-133679800	Weak transcription	Fetal Lung	lung
6	chr2:133677800-133682000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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