Variant report

Variant	nsv583314
Chromosome Location	chr2:151035328-151038142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140844500	chr2:151035456-151035457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575241779	chr2:151035505-151035506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566809332	chr2:151035527-151035528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76459111	chr2:151035547-151035548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149714805	chr2:151035631-151035632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577185780	chr2:151035662-151035663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543165640	chr2:151035684-151035685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145666444	chr2:151035693-151035694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573791344	chr2:151035711-151035712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542787416	chr2:151035742-151035743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186523217	chr2:151035778-151035779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374909732	chr2:151035809-151035810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528413561	chr2:151035813-151035814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568544411	chr2:151035833-151035834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533693627	chr2:151035834-151035835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535679303	chr2:151035837-151035838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545296413	chr2:151035841-151035842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565283587	chr2:151035884-151035885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28407206	chr2:151035905-151035906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545887993	chr2:151035936-151035937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550836392	chr2:151035953-151035954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181156979	chr2:151035955-151035956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530258564	chr2:151035970-151035971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547154417	chr2:151035989-151035990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367627487	chr2:151036004-151036005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566689073	chr2:151036016-151036017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538966545	chr2:151036021-151036022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186178902	chr2:151036056-151036057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189665814	chr2:151036065-151036066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113548635	chr2:151036069-151036070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376079794	chr2:151036091-151036092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556810435	chr2:151036094-151036095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573667754	chr2:151036118-151036119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199906709	chr2:151036132-151036133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542325299	chr2:151036136-151036137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368672176	chr2:151036146-151036147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371998506	chr2:151036147-151036148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145517344	chr2:151036153-151036154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545331688	chr2:151036161-151036162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565168105	chr2:151036183-151036184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530856501	chr2:151036201-151036202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376323972	chr2:151036206-151036207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561259209	chr2:151036216-151036217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530226290	chr2:151036261-151036262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546747185	chr2:151036288-151036289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137892232	chr2:151036298-151036299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532525314	chr2:151036337-151036338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371550179	chr2:151036368-151036369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552489136	chr2:151036409-151036410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569189325	chr2:151036418-151036419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151032200-151035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:151033200-151035600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:151034800-151035800	Enhancers	Liver	Liver
4	chr2:151034800-151035800	Enhancers	Fetal Intestine Large	intestine
5	chr2:151034800-151035800	Enhancers	Hela-S3	cervix
6	chr2:151035000-151035400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr2:151035000-151035600	Weak transcription	A549	lung
8	chr2:151035200-151035400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:151035200-151035600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:151035200-151035600	Enhancers	K562	blood
11	chr2:151035200-151035800	Enhancers	Fetal Lung	lung
12	chr2:151035400-151035600	Enhancers	Fetal Kidney	kidney
13	chr2:151035400-151035800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:151035400-151047000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:151035600-151035800	Enhancers	Fetal Intestine Small	intestine
16	chr2:151035600-151035800	Enhancers	A549	lung
17	chr2:151035800-151038800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:151035800-151039200	Weak transcription	Fetal Lung	lung

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