Variant report

Variant	nsv964363
Chromosome Location	chr20:24291918-24294629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551084398	chr20:24291933-24291934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75574265	chr20:24292005-24292006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536865217	chr20:24292053-24292054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376808221	chr20:24292055-24292056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115111022	chr20:24292056-24292057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11696792	chr20:24292066-24292067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73902801	chr20:24292076-24292077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78511905	chr20:24292129-24292130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78044839	chr20:24292131-24292132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187420040	chr20:24292135-24292136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578015324	chr20:24292136-24292137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543657447	chr20:24292141-24292142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191831676	chr20:24292144-24292145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111356078	chr20:24292145-24292146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542942209	chr20:24292163-24292164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559591717	chr20:24292225-24292226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77538453	chr20:24292261-24292262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544565700	chr20:24292328-24292329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564834526	chr20:24292332-24292333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6114641	chr20:24292339-24292340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141040119	chr20:24292402-24292403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567484987	chr20:24292414-24292415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6114642	chr20:24292437-24292438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546936170	chr20:24292468-24292469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566738098	chr20:24292472-24292473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139000163	chr20:24292505-24292506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6106845	chr20:24292524-24292525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537585867	chr20:24292554-24292555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185017254	chr20:24292555-24292556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6106846	chr20:24292556-24292557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142366296	chr20:24292606-24292607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553262404	chr20:24292618-24292619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189473585	chr20:24292654-24292655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8115971	chr20:24292679-24292680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117319951	chr20:24292692-24292693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192805018	chr20:24292714-24292715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6114643	chr20:24292723-24292724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368220280	chr20:24292724-24292725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35504438	chr20:24292771-24292772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76980119	chr20:24292802-24292803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73332478	chr20:24292823-24292824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566775029	chr20:24292861-24292862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540473991	chr20:24292884-24292885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532494817	chr20:24292902-24292903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552994127	chr20:24292904-24292905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112238769	chr20:24292957-24292958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115392626	chr20:24292968-24292969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376422137	chr20:24292995-24292996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184296524	chr20:24292998-24292999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6114644	chr20:24293011-24293012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24286400-24297000	Weak transcription	Primary T cells from cord blood	blood
2	chr20:24290800-24294800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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