Variant report

Variant	esv3340273
Chromosome Location	chr2:125527382-125531680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542985456	chr2:125529208-125529209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138863487	chr2:125529276-125529277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs528501405	chr2:125529277-125529278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs35493262	chr2:125529296-125529297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs372476973	chr2:125529301-125529302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs190037215	chr2:125529309-125529310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571718023	chr2:125529311-125529312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142855429	chr2:125529314-125529315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549607806	chr2:125529366-125529367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs34480574	chr2:125529405-125529406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535391384	chr2:125529414-125529415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs555330065	chr2:125529457-125529458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527350477	chr2:125529464-125529465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183015316	chr2:125529516-125529517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139403628	chr2:125529546-125529547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577851544	chr2:125529553-125529554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544026441	chr2:125529563-125529564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs141633856	chr2:125529564-125529565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574372453	chr2:125529575-125529576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs542918357	chr2:125529578-125529579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546867435	chr2:125531210-125531211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550130608	chr2:125531218-125531219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375583448	chr2:125531219-125531220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184556436	chr2:125531246-125531247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140981658	chr2:125531251-125531252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150223511	chr2:125531285-125531286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569247615	chr2:125531315-125531316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62171342	chr2:125531320-125531321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372995762	chr2:125531341-125531342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142316769	chr2:125531342-125531343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12471937	chr2:125531357-125531358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554592712	chr2:125531373-125531374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554219997	chr2:125531429-125531430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574828982	chr2:125531485-125531486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370393037	chr2:125531487-125531488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141433981	chr2:125531520-125531521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111994757	chr2:125531522-125531523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112971458	chr2:125531523-125531524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55983717	chr2:125531524-125531525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376227307	chr2:125531525-125531526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12475730	chr2:125531526-125531527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540682918	chr2:125531528-125531529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs70999215	chr2:125531544-125531545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553978483	chr2:125531675-125531676	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125529200-125529600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:125531200-125532000	Enhancers	Fetal Lung	lung
3	chr2:125531400-125532000	Enhancers	Fetal Brain Male	brain

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