Variant report

Variant	nsv528766
Chromosome Location	chr2:151774643-151776216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 49 )

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	rs12328269	chr2:151774643-151774644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34989332	chr2:151774676-151774677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150773382	chr2:151774722-151774723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76610563	chr2:151774743-151774744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79487451	chr2:151774746-151774747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546897184	chr2:151774768-151774769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372926389	chr2:151774824-151774825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149904760	chr2:151774843-151774844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13383120	chr2:151774894-151774895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13383121	chr2:151774901-151774902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79677299	chr2:151774909-151774910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534310592	chr2:151774913-151774914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138300889	chr2:151774928-151774929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554273026	chr2:151774931-151774932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577399478	chr2:151774950-151774951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142791919	chr2:151774966-151774967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368988403	chr2:151774971-151774972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529095153	chr2:151774975-151774976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28515682	chr2:151774977-151774978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13383157	chr2:151774981-151774982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556519334	chr2:151774988-151774989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199718030	chr2:151774989-151774990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200342288	chr2:151774990-151774991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374694508	chr2:151774993-151774994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12327927	chr2:151774997-151774998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369830995	chr2:151774998-151774999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6722158	chr2:151775001-151775002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13383248	chr2:151775015-151775016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140017015	chr2:151775035-151775036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373394579	chr2:151775044-151775045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542469702	chr2:151775055-151775056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566619602	chr2:151775056-151775057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562146819	chr2:151775111-151775112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74946609	chr2:151775123-151775124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187525911	chr2:151775130-151775131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559851636	chr2:151775133-151775134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76612329	chr2:151775141-151775142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545520351	chr2:151775170-151775171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144963652	chr2:151775226-151775227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140786269	chr2:151775237-151775238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548436874	chr2:151775251-151775252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78266941	chr2:151775289-151775290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538678470	chr2:151775340-151775341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544261200	chr2:151775405-151775406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527515964	chr2:151775408-151775409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs66739021	chr2:151775409-151775410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143185071	chr2:151775423-151775424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539931452	chr2:151775504-151775505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556293070	chr2:151775531-151775532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553438319	chr2:151775553-151775554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151769000-151788200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:151769800-151777000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:151771200-151806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:151774000-151776800	Weak transcription	HSMMtube	muscle
5	chr2:151774000-151777000	Weak transcription	HSMM	muscle
6	chr2:151774200-151776000	Weak transcription	Osteobl	bone
7	chr2:151774200-151776400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:151775800-151776200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:151776000-151777000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:151776000-151778000	Enhancers	Osteobl	bone
11	chr2:151776200-151776600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:151776200-151777200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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