Variant report

Variant	nsv947535
Chromosome Location	chr1:90946840-90954094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 260 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529914561	chr1:90946843-90946844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184144962	chr1:90946858-90946859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1337573	chr1:90946863-90946864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539358330	chr1:90946882-90946883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189174803	chr1:90946910-90946911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539348331	chr1:90946920-90946921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552718504	chr1:90946924-90946925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397860353	chr1:90946934-90946935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376767214	chr1:90946946-90946947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570756417	chr1:90947000-90947001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111921277	chr1:90947009-90947010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566317337	chr1:90947026-90947027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74355789	chr1:90947029-90947030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35799795	chr1:90947044-90947045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148430113	chr1:90947133-90947134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551449817	chr1:90947203-90947204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137974232	chr1:90947215-90947216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571623728	chr1:90947220-90947221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74840933	chr1:90947238-90947239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149624959	chr1:90947239-90947240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12059950	chr1:90947257-90947258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146490748	chr1:90947317-90947318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557595298	chr1:90947331-90947332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372304861	chr1:90947373-90947374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575961569	chr1:90947567-90947568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546515538	chr1:90947608-90947609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373825306	chr1:90947650-90947651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181505872	chr1:90947686-90947687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186477038	chr1:90947742-90947743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540252096	chr1:90947779-90947780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573502068	chr1:90947807-90947808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1418788	chr1:90947832-90947833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs115026571	chr1:90947840-90947841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550321201	chr1:90947851-90947852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562349251	chr1:90947864-90947865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533008995	chr1:90947867-90947868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551379961	chr1:90947869-90947870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567659587	chr1:90947870-90947871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61770117	chr1:90947884-90947885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191813495	chr1:90947885-90947886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575705661	chr1:90947913-90947914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs699530	chr1:90947926-90947927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs699529	chr1:90947969-90947970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545696406	chr1:90947982-90947983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535954022	chr1:90947986-90947987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557536796	chr1:90947993-90947994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139957582	chr1:90947996-90947997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12757642	chr1:90948011-90948012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12723405	chr1:90948012-90948013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368794353	chr1:90948080-90948081	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90945000-90954800	Enhancers	Dnd41	blood
2	chr1:90951800-90952000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:90952000-90953200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:90952000-90954800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:90953200-90954000	Enhancers	HSMM	muscle
6	chr1:90953200-90954800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:90953600-90953800	Enhancers	Osteobl	bone
8	chr1:90953600-90954800	Enhancers	NH-A	brain
9	chr1:90954000-90954600	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links