Variant report

Variant	esv15668
Chromosome Location	chr2:145480956-145485337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145484857..145486363-chr2:145489944..145492720,2	K562	blood:
2	chr2:145484863..145486795-chr2:145491067..145492720,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573125033	chr2:145480973-145480974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548064012	chr2:145481060-145481061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372036207	chr2:145481126-145481127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566785757	chr2:145481168-145481169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191682627	chr2:145481184-145481185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183828177	chr2:145481229-145481230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576386779	chr2:145481260-145481261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532396564	chr2:145481274-145481275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142477230	chr2:145481280-145481281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116443302	chr2:145481288-145481289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188994294	chr2:145481355-145481356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542055389	chr2:145481366-145481367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560500392	chr2:145481387-145481388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181538111	chr2:145481396-145481397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541452102	chr2:145481398-145481399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375208772	chr2:145481478-145481479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546171040	chr2:145481577-145481578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540724953	chr2:145481603-145481604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151243072	chr2:145481655-145481656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550313519	chr2:145481688-145481689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562197460	chr2:145481693-145481694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529383182	chr2:145481719-145481720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548410262	chr2:145481745-145481746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566537926	chr2:145481775-145481776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140458519	chr2:145481780-145481781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11691685	chr2:145481827-145481828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145674120	chr2:145481838-145481839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537417957	chr2:145481840-145481841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185194263	chr2:145481859-145481860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190521089	chr2:145481885-145481886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72999720	chr2:145481934-145481935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554386917	chr2:145481959-145481960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4662230	chr2:145482023-145482024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567714301	chr2:145482090-145482091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562001743	chr2:145482091-145482092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146579780	chr2:145482098-145482099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115062320	chr2:145482103-145482104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114076158	chr2:145482104-145482105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529142601	chr2:145482215-145482216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531189562	chr2:145482222-145482223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77831281	chr2:145482245-145482246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112240475	chr2:145482274-145482275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140315597	chr2:145482286-145482287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35425644	chr2:145482353-145482354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371271563	chr2:145482359-145482360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200676642	chr2:145482373-145482374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375855161	chr2:145482418-145482419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182359204	chr2:145482433-145482434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560294332	chr2:145482441-145482442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145447028	chr2:145482447-145482448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145463200-145495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145485000-145486200	Enhancers	Dnd41	blood

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