Variant report

Variant	nsv947503
Chromosome Location	chr1:103220556-103225513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182752073	chr1:103220562-103220563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187417345	chr1:103220573-103220574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557667998	chr1:103220584-103220585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575837706	chr1:103220603-103220604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543273238	chr1:103220611-103220612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555257758	chr1:103220622-103220623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573274615	chr1:103220633-103220634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540603639	chr1:103220677-103220678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559333437	chr1:103220686-103220687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546734267	chr1:103220692-103220693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191877033	chr1:103220713-103220714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563682070	chr1:103220742-103220743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12136992	chr1:103220808-103220809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549662206	chr1:103220858-103220859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143255752	chr1:103220879-103220880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529330472	chr1:103220906-103220907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376679629	chr1:103220908-103220909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568127613	chr1:103220938-103220939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182920652	chr1:103220963-103220964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571664883	chr1:103220979-103220980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12752702	chr1:103221023-103221024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187524795	chr1:103221030-103221031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569477458	chr1:103221055-103221056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536869410	chr1:103221068-103221069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549460322	chr1:103221078-103221079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555171791	chr1:103221092-103221093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573583405	chr1:103221145-103221146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193001680	chr1:103221148-103221149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1823550	chr1:103221150-103221151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569107445	chr1:103221160-103221161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75850164	chr1:103221184-103221185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577569799	chr1:103221207-103221208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544735504	chr1:103221216-103221217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563384704	chr1:103221263-103221264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575876741	chr1:103221281-103221282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140520212	chr1:103221282-103221283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182631641	chr1:103221347-103221348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550967498	chr1:103221393-103221394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150418665	chr1:103221394-103221395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138029757	chr1:103221403-103221404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12748410	chr1:103221406-103221407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565096308	chr1:103221411-103221412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532555406	chr1:103221414-103221415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550769162	chr1:103221433-103221434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372434391	chr1:103221472-103221473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6577336	chr1:103221522-103221523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187014592	chr1:103221530-103221531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12132471	chr1:103221544-103221545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34859782	chr1:103221570-103221571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12217102	chr1:103221577-103221578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103218800-103233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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