Variant report

Variant	nsv499388
Chromosome Location	chr21:41346482-41347078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372023757	chr21:41346489-41346490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9680355	chr21:41346510-41346511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13048892	chr21:41346512-41346513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1734923	chr21:41346519-41346520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377179961	chr21:41346541-41346542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112934952	chr21:41346550-41346551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55958975	chr21:41346576-41346577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1734924	chr21:41346584-41346585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4816667	chr21:41346586-41346587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4816668	chr21:41346593-41346594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113593627	chr21:41346624-41346625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12483465	chr21:41346658-41346659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28679368	chr21:41346660-41346661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55696778	chr21:41346667-41346668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111790947	chr21:41346698-41346699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370975782	chr21:41346707-41346708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77173460	chr21:41346732-41346733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74198147	chr21:41346734-41346735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556473535	chr21:41346741-41346742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28601627	chr21:41346754-41346755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112612591	chr21:41346772-41346773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371820851	chr21:41346806-41346807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35615416	chr21:41346808-41346809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1235557	chr21:41346815-41346816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548242888	chr21:41346822-41346823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1235559	chr21:41346828-41346829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1235563	chr21:41346846-41346847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12483540	chr21:41346882-41346883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8128922	chr21:41346889-41346890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112201266	chr21:41346920-41346921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56170815	chr21:41346954-41346955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8128954	chr21:41346956-41346957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57462610	chr21:41346963-41346964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111677045	chr21:41346969-41346970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56255921	chr21:41347011-41347012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57521288	chr21:41347023-41347024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61603892	chr21:41347024-41347025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8128304	chr21:41347030-41347031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56311609	chr21:41347037-41347038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557304466	chr21:41347065-41347066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28758935	chr21:41347068-41347069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570714583	chr21:41347071-41347072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34896030	chr21:41347072-41347073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41344400-41353000	Weak transcription	Fetal Kidney	kidney

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