Variant report

Variant	esv3386881
Chromosome Location	chr2:132974485-132974935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550801115	chr2:132974487-132974488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569036804	chr2:132974490-132974491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140843760	chr2:132974502-132974503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs149498761	chr2:132974503-132974504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs78492278	chr2:132974504-132974505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139833309	chr2:132974510-132974511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368103174	chr2:132974516-132974517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539626625	chr2:132974522-132974523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146470512	chr2:132974524-132974525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200554145	chr2:132974527-132974528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79246842	chr2:132974529-132974530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551526389	chr2:132974530-132974531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs180735292	chr2:132974532-132974533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs76486354	chr2:132974538-132974539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79334151	chr2:132974540-132974541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs79138003	chr2:132974541-132974542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs79216945	chr2:132974544-132974545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76008005	chr2:132974546-132974547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113266005	chr2:132974550-132974551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533824014	chr2:132974552-132974553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73614991	chr2:132974558-132974559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555022594	chr2:132974562-132974563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs75802333	chr2:132974564-132974565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75775404	chr2:132974567-132974568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78629247	chr2:132974569-132974570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201853166	chr2:132974571-132974572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78308808	chr2:132974574-132974575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77711475	chr2:132974575-132974576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79488329	chr2:132974576-132974577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs148074418	chr2:132974578-132974579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75178651	chr2:132974579-132974580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78308813	chr2:132974582-132974583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs367644870	chr2:132974587-132974588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs139046643	chr2:132974606-132974607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201885689	chr2:132974618-132974619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs372178345	chr2:132974623-132974624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs35501241	chr2:132974633-132974634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376822263	chr2:132974638-132974639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76272704	chr2:132974641-132974642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369729809	chr2:132974647-132974648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567950495	chr2:132974662-132974663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538119940	chr2:132974663-132974664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs62165465	chr2:132974668-132974669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74996453	chr2:132974669-132974670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs373979300	chr2:132974678-132974679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs375877556	chr2:132974686-132974687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369982646	chr2:132974687-132974688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556354827	chr2:132974694-132974695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs377006880	chr2:132974701-132974702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs62165466	chr2:132974703-132974704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132974400-132975400	ZNF genes & repeats	Fetal Brain Male	brain
2	chr2:132974400-132977800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132974400-132977800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:132974600-132977800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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