Variant report

Variant	nsv528348
Chromosome Location	chr20:11013452-11014704
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	chr1:45196343..45198185-chr20:11012064..11013584,2	K562	blood:
2	chr20:11010266..11012512-chr20:11014160..11016300,2	K562	blood:

Variant related genes	Relation type
ENSG00000200169	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11905962	chr20:11013452-11013453	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6134112	chr20:11013464-11013465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531069834	chr20:11013489-11013490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535318172	chr20:11013505-11013506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543737042	chr20:11013512-11013513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60159358	chr20:11013570-11013571	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372025793	chr20:11013595-11013596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564523682	chr20:11013615-11013616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187174504	chr20:11013628-11013629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546765227	chr20:11013639-11013640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6040313	chr20:11013651-11013652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535870057	chr20:11013766-11013767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117565818	chr20:11013793-11013794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191233433	chr20:11013810-11013811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530446963	chr20:11013817-11013818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182309331	chr20:11013909-11013910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557166391	chr20:11014074-11014075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78618213	chr20:11014075-11014076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539552296	chr20:11014076-11014077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75172113	chr20:11014126-11014127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375116870	chr20:11014148-11014149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572558018	chr20:11014169-11014170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187680522	chr20:11014172-11014173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554934183	chr20:11014173-11014174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150133189	chr20:11014180-11014181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192586733	chr20:11014208-11014209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368170364	chr20:11014280-11014281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185031881	chr20:11014304-11014305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77554438	chr20:11014359-11014360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533375964	chr20:11014371-11014372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540790450	chr20:11014398-11014399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560569366	chr20:11014399-11014400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190280569	chr20:11014418-11014419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549439445	chr20:11014432-11014433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569270915	chr20:11014433-11014434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564141476	chr20:11014451-11014452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530860704	chr20:11014464-11014465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372058366	chr20:11014478-11014479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550584026	chr20:11014550-11014551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192541896	chr20:11014554-11014555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539261644	chr20:11014617-11014618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73253354	chr20:11014674-11014675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111447650	chr20:11014683-11014684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77600927	chr20:11014684-11014685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188838498	chr20:11014685-11014686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6104695	chr20:11014704-11014705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10988400-11015600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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