Variant report

Variant	nsv586005
Chromosome Location	chr20:40955893-40964972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6072687	chr20:40955893-40955894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548624837	chr20:40955902-40955903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561314942	chr20:40955934-40955935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555731830	chr20:40955990-40955991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186851058	chr20:40955999-40956000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550213094	chr20:40956023-40956024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570259491	chr20:40956037-40956038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146562656	chr20:40956070-40956071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561290412	chr20:40956074-40956075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546805483	chr20:40956087-40956088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191633370	chr20:40956113-40956114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535711225	chr20:40956120-40956121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555711719	chr20:40956154-40956155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574840623	chr20:40956160-40956161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541979288	chr20:40956164-40956165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371128775	chr20:40956167-40956168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67017467	chr20:40956183-40956184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576470416	chr20:40956184-40956185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140948536	chr20:40956192-40956193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183226122	chr20:40956199-40956200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377413750	chr20:40956220-40956221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6102777	chr20:40956240-40956241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546058318	chr20:40956304-40956305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559871288	chr20:40956331-40956332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139920906	chr20:40956342-40956343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149762613	chr20:40956365-40956366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186438856	chr20:40956395-40956396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2187853	chr20:40956416-40956417	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6102778	chr20:40956500-40956501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372535539	chr20:40956526-40956527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149105313	chr20:40956559-40956560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6072688	chr20:40956566-40956567	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs146047494	chr20:40956569-40956570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546397656	chr20:40956570-40956571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566623702	chr20:40956580-40956581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535295967	chr20:40956625-40956626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191201170	chr20:40956652-40956653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182247202	chr20:40956740-40956741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201315513	chr20:40956748-40956749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537429382	chr20:40956773-40956774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547717995	chr20:40956896-40956897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147821079	chr20:40956964-40956965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575967753	chr20:40956969-40956970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115531636	chr20:40957008-40957009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553201574	chr20:40957137-40957138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114571862	chr20:40957139-40957140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542063770	chr20:40957198-40957199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555631040	chr20:40957216-40957217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59448108	chr20:40957243-40957244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543781579	chr20:40957244-40957245	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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