Variant report

Variant	nsv518914
Chromosome Location	chr20:15815316-15816595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4814403	chr20:15815316-15815317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555611222	chr20:15815319-15815320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146815923	chr20:15815329-15815330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565942771	chr20:15815337-15815338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572528212	chr20:15815402-15815403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202119140	chr20:15815412-15815413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183426552	chr20:15815440-15815441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540825411	chr20:15815470-15815471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573043624	chr20:15815508-15815509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145130795	chr20:15815518-15815519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2191521	chr20:15815519-15815520	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2191520	chr20:15815560-15815561	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79381705	chr20:15815576-15815577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574438667	chr20:15815577-15815578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35670490	chr20:15815593-15815594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73097300	chr20:15815679-15815680	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73097301	chr20:15815701-15815702	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79856839	chr20:15815731-15815732	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs2191519	chr20:15815739-15815740	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188495272	chr20:15815843-15815844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368287218	chr20:15815897-15815898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371739348	chr20:15815901-15815902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11087145	chr20:15815903-15815904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59585485	chr20:15815904-15815905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58296092	chr20:15815905-15815906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6043569	chr20:15816005-15816006	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529209537	chr20:15816013-15816014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547633662	chr20:15816042-15816043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73246785	chr20:15816053-15816054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567120654	chr20:15816104-15816105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369958363	chr20:15816108-15816109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78031129	chr20:15816167-15816168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558345902	chr20:15816183-15816184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191242989	chr20:15816190-15816191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16996657	chr20:15816236-15816237	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537948305	chr20:15816244-15816245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560850057	chr20:15816257-15816258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201173430	chr20:15816273-15816274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149115385	chr20:15816334-15816335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146091688	chr20:15816383-15816384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138661237	chr20:15816385-15816386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141079858	chr20:15816386-15816387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572340900	chr20:15816449-15816450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374341960	chr20:15816493-15816494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76475704	chr20:15816520-15816521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556464841	chr20:15816542-15816543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6034299	chr20:15816595-15816596	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15814400-15815400	Weak transcription	Fetal Brain Female	brain
2	chr20:15814400-15816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:15814400-15817400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:15815000-15816600	Weak transcription	Brain Germinal Matrix	brain
5	chr20:15815400-15815800	Enhancers	Fetal Brain Female	brain
6	chr20:15815400-15816800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:15815400-15816800	Enhancers	Fetal Heart	heart
8	chr20:15815600-15815800	Bivalent Enhancer	HSMMtube	muscle
9	chr20:15815800-15829600	Weak transcription	Fetal Brain Female	brain

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