Variant report

Variant	nsv523080
Chromosome Location	chr20:40949831-40964800
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	chr20:40945609..40947782-chr20:40948642..40950404,2	K562	blood:

Extended variants
information (count: 373 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4635580	chr20:40949831-40949832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149497580	chr20:40949857-40949858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533401720	chr20:40949862-40949863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147172036	chr20:40949895-40949896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6030132	chr20:40949904-40949905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548559776	chr20:40949946-40949947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568739047	chr20:40949965-40949966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138702639	chr20:40949993-40949994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546750880	chr20:40950031-40950032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550200801	chr20:40950035-40950036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570196122	chr20:40950042-40950043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539173021	chr20:40950063-40950064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190535306	chr20:40950075-40950076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566511773	chr20:40950087-40950088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183648466	chr20:40950101-40950102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576948173	chr20:40950113-40950114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62208720	chr20:40950117-40950118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74670374	chr20:40950137-40950138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6016745	chr20:40950183-40950184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369666235	chr20:40950220-40950221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557420450	chr20:40950225-40950226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115344957	chr20:40950257-40950258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142715917	chr20:40950358-40950359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559897307	chr20:40950378-40950379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189037538	chr20:40950390-40950391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542455697	chr20:40950433-40950434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373100476	chr20:40950446-40950447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542154066	chr20:40950476-40950477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8124605	chr20:40950494-40950495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531268928	chr20:40950495-40950496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140239827	chr20:40950519-40950520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531797559	chr20:40950550-40950551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193140293	chr20:40950574-40950575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546246973	chr20:40950576-40950577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566562616	chr20:40950585-40950586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56084371	chr20:40950594-40950595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6093616	chr20:40950613-40950614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569038125	chr20:40950619-40950620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538112426	chr20:40950625-40950626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6093617	chr20:40950630-40950631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6093618	chr20:40950637-40950638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566876419	chr20:40950638-40950639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6093619	chr20:40950644-40950645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573326317	chr20:40950661-40950662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150681582	chr20:40950668-40950669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542040743	chr20:40950669-40950670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186895932	chr20:40950751-40950752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575769983	chr20:40950784-40950785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6093620	chr20:40950805-40950806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191674423	chr20:40950815-40950816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	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
Soft tissue tumor	16732325	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
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
Colorectal cancer	16774939	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40945000-40957400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40956200-40957000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr20:40957400-40957800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:40958000-40958200	Enhancers	Fetal Brain Male	brain
5	chr20:40964000-40964400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr20:40964400-40966800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:40964800-40969800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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