Variant report

Variant	nsv525582
Chromosome Location	chr1:98592630-98595853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1487299	chr1:98592630-98592631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74106056	chr1:98592635-98592636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143237542	chr1:98592663-98592664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77203028	chr1:98592772-98592773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572547075	chr1:98592789-98592790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541386269	chr1:98592827-98592828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151337147	chr1:98592857-98592858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140596655	chr1:98592873-98592874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544089142	chr1:98592887-98592888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12082064	chr1:98592888-98592889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532958789	chr1:98592932-98592933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546960782	chr1:98592991-98592992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566762700	chr1:98593012-98593013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367606686	chr1:98593016-98593017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548556828	chr1:98593059-98593060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568477696	chr1:98593081-98593082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537587571	chr1:98593143-98593144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185939415	chr1:98593157-98593158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147106536	chr1:98593180-98593181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200685319	chr1:98593187-98593188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190309519	chr1:98593221-98593222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539637846	chr1:98593272-98593273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553264028	chr1:98593295-98593296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12135238	chr1:98593322-98593323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573157768	chr1:98593330-98593331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138486700	chr1:98593347-98593348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554905176	chr1:98593421-98593422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143946932	chr1:98593424-98593425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575113538	chr1:98593460-98593461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554701869	chr1:98593476-98593477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544320280	chr1:98593489-98593490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564021663	chr1:98593522-98593523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182575623	chr1:98593526-98593527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11165951	chr1:98593653-98593654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560466276	chr1:98593673-98593674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543502183	chr1:98593708-98593709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529168129	chr1:98593720-98593721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186066677	chr1:98593745-98593746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549283237	chr1:98593747-98593748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568470249	chr1:98593751-98593752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530809672	chr1:98593777-98593778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551095764	chr1:98593825-98593826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570818985	chr1:98593827-98593828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539651099	chr1:98593862-98593863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190979939	chr1:98593905-98593906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556808606	chr1:98593935-98593936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80207329	chr1:98594017-98594018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535776985	chr1:98594063-98594064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555616795	chr1:98594114-98594115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373510706	chr1:98594134-98594135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98585200-98598200	Weak transcription	Fetal Brain Male	brain
2	chr1:98591600-98593200	Enhancers	HUVEC	blood vessel
3	chr1:98591800-98592800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:98595000-98595200	Enhancers	HUVEC	blood vessel

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