Variant report

Variant	nsv963881
Chromosome Location	chr2:125930176-125939639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 270 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541984272	chr2:125932608-125932609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555417212	chr2:125932648-125932649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572020809	chr2:125932695-125932696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116769857	chr2:125932699-125932700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563836338	chr2:125932725-125932726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563762923	chr2:125932726-125932727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532732789	chr2:125932728-125932729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543188185	chr2:125932746-125932747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375688503	chr2:125932807-125932808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563375976	chr2:125932824-125932825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529510891	chr2:125932835-125932836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191080618	chr2:125932840-125932841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566099824	chr2:125932856-125932857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6755508	chr2:125932863-125932864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549185672	chr2:125932901-125932902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552074587	chr2:125932920-125932921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571682064	chr2:125932921-125932922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537425249	chr2:125932922-125932923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373003518	chr2:125932926-125932927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557200460	chr2:125932930-125932931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567741851	chr2:125932959-125932960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536310674	chr2:125932975-125932976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532812600	chr2:125932998-125932999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377166393	chr2:125933000-125933001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555544228	chr2:125933104-125933105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571884089	chr2:125933118-125933119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540942716	chr2:125933120-125933121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557614603	chr2:125933209-125933210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549458672	chr2:125933220-125933221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115213013	chr2:125933273-125933274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114221779	chr2:125933285-125933286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563278822	chr2:125933315-125933316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528990962	chr2:125933337-125933338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542310997	chr2:125933359-125933360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114867254	chr2:125933376-125933377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181778895	chr2:125933396-125933397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141047448	chr2:125933418-125933419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571946865	chr2:125933433-125933434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116078256	chr2:125933462-125933463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79702503	chr2:125933466-125933467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536776874	chr2:125933472-125933473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546746762	chr2:125933498-125933499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186281264	chr2:125933546-125933547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538029521	chr2:125933575-125933576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115304065	chr2:125933617-125933618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554883949	chr2:125933655-125933656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557679564	chr2:125933669-125933670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62157726	chr2:125933671-125933672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116783467	chr2:125933699-125933700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190711913	chr2:125933706-125933707	Weak transcription	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125932600-125933400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:125932800-125933600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:125933200-125933400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:125933200-125933600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:125933200-125933600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:125933200-125933600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:125933600-125943400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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