Variant report

Variant	nsv519967
Chromosome Location	chr1:103123803-103133909
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	chr1:103125383..103127763-chr1:103133909..103135620,2	K562	blood:
2	chr1:103125383..103127763-chr1:103133909..103135620,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558801948	chr1:103125439-103125440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556227797	chr1:103125454-103125455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577031909	chr1:103125487-103125488	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544619543	chr1:103125518-103125519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201450490	chr1:103125529-103125530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535123582	chr1:103125554-103125555	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553425635	chr1:103125604-103125605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571813055	chr1:103125618-103125619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144803748	chr1:103125629-103125630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182834354	chr1:103125632-103125633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576607163	chr1:103125647-103125648	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs148553863	chr1:103125651-103125652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562278362	chr1:103125655-103125656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529251563	chr1:103125678-103125679	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187116507	chr1:103125687-103125688	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542334190	chr1:103125707-103125708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs144553335	chr1:103125746-103125747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191500516	chr1:103125758-103125759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570620303	chr1:103125767-103125768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374092527	chr1:103125770-103125771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184243609	chr1:103125776-103125777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550017554	chr1:103125790-103125791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568287877	chr1:103125810-103125811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7542811	chr1:103125838-103125839	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2376174	chr1:103125847-103125848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553362515	chr1:103125866-103125867	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs571749895	chr1:103125902-103125903	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539144482	chr1:103125907-103125908	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs557459559	chr1:103125912-103125913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141224526	chr1:103125919-103125920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs188749241	chr1:103126148-103126149	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374673447	chr1:103126180-103126181	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7543104	chr1:103126190-103126191	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143558839	chr1:103126222-103126223	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs372616746	chr1:103126229-103126230	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs559771031	chr1:103126234-103126235	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533409510	chr1:103126236-103126237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs551880536	chr1:103126238-103126239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563650600	chr1:103126254-103126255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531508320	chr1:103126259-103126260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376824343	chr1:103126319-103126320	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549714908	chr1:103126358-103126359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs190882081	chr1:103126364-103126365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535354595	chr1:103126369-103126370	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs151278471	chr1:103126370-103126371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565315192	chr1:103126384-103126385	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140517146	chr1:103126406-103126407	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557396355	chr1:103126422-103126423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569673283	chr1:103126423-103126424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs182298612	chr1:103126452-103126453	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	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
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103125400-103126600	Active TSS	Placenta	Placenta
2	chr1:103125400-103127200	Active TSS	K562	blood

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