Variant report

Variant	esv3324324
Chromosome Location	chr2:132975380-132975891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534564475	chr2:132975384-132975385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201988614	chr2:132975387-132975388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs62165478	chr2:132975392-132975393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs75615181	chr2:132975402-132975403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs536830818	chr2:132975408-132975409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112724413	chr2:132975416-132975417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs554810475	chr2:132975417-132975418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111326647	chr2:132975419-132975420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62165479	chr2:132975436-132975437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576600003	chr2:132975469-132975470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs56082913	chr2:132975482-132975483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537451665	chr2:132975483-132975484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558944119	chr2:132975501-132975502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs377534155	chr2:132975502-132975503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201357048	chr2:132975505-132975506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544940061	chr2:132975510-132975511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62165480	chr2:132975513-132975514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs62165481	chr2:132975517-132975518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62165482	chr2:132975524-132975525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs71180481	chr2:132975544-132975545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78698285	chr2:132975558-132975559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145599196	chr2:132975562-132975563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572174964	chr2:132975563-132975564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs542805580	chr2:132975569-132975570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368040766	chr2:132975586-132975587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371475654	chr2:132975593-132975594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560691496	chr2:132975597-132975598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs531267776	chr2:132975646-132975647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549371401	chr2:132975660-132975661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111889284	chr2:132975665-132975666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141470072	chr2:132975673-132975674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs368236531	chr2:132975681-132975682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532859309	chr2:132975682-132975683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200472717	chr2:132975684-132975685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113149987	chr2:132975688-132975689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547801026	chr2:132975691-132975692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113359085	chr2:132975695-132975696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62165483	chr2:132975717-132975718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566357091	chr2:132975718-132975719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536485021	chr2:132975743-132975744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62165484	chr2:132975750-132975751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575500407	chr2:132975752-132975753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs141015966	chr2:132975765-132975766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62165485	chr2:132975768-132975769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs62165486	chr2:132975770-132975771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62165487	chr2:132975778-132975779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200462847	chr2:132975781-132975782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs62165488	chr2:132975784-132975785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548757703	chr2:132975791-132975792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs62165489	chr2:132975800-132975801	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:9 , 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
5	chr2:132975600-132977800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr2:132975800-132976800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:132975800-132977800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr2:132975800-132977800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr2:132975800-132977800	ZNF genes & repeats	Adipose Nuclei	Adipose

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