Variant report

Variant	nsv518011
Chromosome Location	chr20:15813644-15817106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6043561	chr20:15813644-15813645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577488652	chr20:15813653-15813654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138616346	chr20:15813687-15813688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545758290	chr20:15813697-15813698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2876414	chr20:15813704-15813705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530183486	chr20:15813728-15813729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143093501	chr20:15813739-15813740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6043562	chr20:15813740-15813741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560687764	chr20:15813767-15813768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528171147	chr20:15813827-15813828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576083224	chr20:15813861-15813862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142762498	chr20:15813876-15813877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571146857	chr20:15813881-15813882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376929127	chr20:15813928-15813929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571209433	chr20:15813939-15813940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532323051	chr20:15813943-15813944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147365723	chr20:15813967-15813968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6043563	chr20:15814016-15814017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568960815	chr20:15814025-15814026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541967740	chr20:15814026-15814027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189575774	chr20:15814042-15814043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554800619	chr20:15814043-15814044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139251779	chr20:15814045-15814046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527530255	chr20:15814061-15814062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547651714	chr20:15814091-15814092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149400962	chr20:15814105-15814106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144864944	chr20:15814109-15814110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6043564	chr20:15814120-15814121	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6043565	chr20:15814177-15814178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574781023	chr20:15814190-15814191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549749375	chr20:15814204-15814205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375135688	chr20:15814211-15814212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560293707	chr20:15814218-15814219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148580009	chr20:15814301-15814302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142957542	chr20:15814303-15814304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564750078	chr20:15814306-15814307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532085482	chr20:15814315-15814316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550610853	chr20:15814365-15814366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562842681	chr20:15814368-15814369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6034298	chr20:15814392-15814393	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535532689	chr20:15814394-15814395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6043566	chr20:15814402-15814403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548438290	chr20:15814418-15814419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73898523	chr20:15814435-15814436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370903013	chr20:15814473-15814474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146066459	chr20:15814487-15814488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181130659	chr20:15814565-15814566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570764476	chr20:15814613-15814614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140000922	chr20:15814618-15814619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553218059	chr20:15814687-15814688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15813400-15814400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:15813400-15814400	Weak transcription	Brain Germinal Matrix	brain
3	chr20:15813800-15814400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:15814000-15814200	Enhancers	Fetal Brain Female	brain
5	chr20:15814400-15815000	Enhancers	Brain Germinal Matrix	brain
6	chr20:15814400-15815400	Weak transcription	Fetal Brain Female	brain
7	chr20:15814400-15816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:15814400-15817400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr20:15815000-15816600	Weak transcription	Brain Germinal Matrix	brain
10	chr20:15815400-15815800	Enhancers	Fetal Brain Female	brain
11	chr20:15815400-15816800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:15815400-15816800	Enhancers	Fetal Heart	heart
13	chr20:15815600-15815800	Bivalent Enhancer	HSMMtube	muscle
14	chr20:15815800-15829600	Weak transcription	Fetal Brain Female	brain
15	chr20:15816600-15816800	Enhancers	Brain Germinal Matrix	brain
16	chr20:15816800-15817000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:15817000-15818200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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