Variant report

Variant	nsv525353
Chromosome Location	chr20:41786039-41787164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1572924	chr20:41786039-41786040	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539788963	chr20:41786045-41786046	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182639104	chr20:41786052-41786053	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73106069	chr20:41786082-41786083	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188333841	chr20:41786090-41786091	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112294303	chr20:41786098-41786099	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536060642	chr20:41786149-41786150	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146200245	chr20:41786157-41786158	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35976143	chr20:41786167-41786168	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575300728	chr20:41786188-41786189	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559605580	chr20:41786236-41786237	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191903883	chr20:41786274-41786275	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564117493	chr20:41786299-41786300	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577982952	chr20:41786342-41786343	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183642219	chr20:41786345-41786346	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73909573	chr20:41786355-41786356	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6016967	chr20:41786385-41786386	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542813706	chr20:41786406-41786407	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189131940	chr20:41786408-41786409	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531072388	chr20:41786451-41786452	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367651013	chr20:41786471-41786472	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550694005	chr20:41786495-41786496	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191288822	chr20:41786500-41786501	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566020950	chr20:41786504-41786505	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546853864	chr20:41786529-41786530	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566844257	chr20:41786533-41786534	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535627206	chr20:41786602-41786603	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142503498	chr20:41786619-41786620	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568857269	chr20:41786659-41786660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537974596	chr20:41786660-41786661	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557771505	chr20:41786663-41786664	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11266974	chr20:41786679-41786680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397821379	chr20:41786681-41786682	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202118973	chr20:41786682-41786683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373677281	chr20:41786683-41786684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534940659	chr20:41786696-41786697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371903669	chr20:41786722-41786723	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540255427	chr20:41786744-41786745	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183723909	chr20:41786759-41786760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186900452	chr20:41786781-41786782	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4812681	chr20:41786802-41786803	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs6016968	chr20:41786833-41786834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562747335	chr20:41786834-41786835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145995597	chr20:41786836-41786837	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530498943	chr20:41786851-41786852	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139578456	chr20:41786914-41786915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544332027	chr20:41786950-41786951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545849926	chr20:41786953-41786954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116727683	chr20:41786973-41786974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149738770	chr20:41787035-41787036	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Cervical cancer	16585170	CNVD
Developmental delay	21373258	CNVD
Breast cancer	21806811	CNVD
Mental retardation	17901693	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Barrett''s esophagus	18559552	CNVD
Renal cell carcinoma	18765545	CNVD
Lung cancer	16740712	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41775400-41787800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:41785000-41786600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:41785000-41788200	Weak transcription	Fetal Brain Male	brain
4	chr20:41785600-41788200	Weak transcription	Fetal Brain Female	brain
5	chr20:41785800-41788200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:41786600-41787000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr20:41787000-41790600	Enhancers	Cortex derived primary cultured neurospheres	brain

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