Variant report

Variant	nsv8340
Chromosome Location	chr8:51085564-51087130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369646103	chr8:51085591-51085592	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557366560	chr8:51085605-51085606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575922133	chr8:51085606-51085607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544367809	chr8:51085612-51085613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578092137	chr8:51085635-51085636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116843902	chr8:51085643-51085644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141090425	chr8:51085651-51085652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146927504	chr8:51085664-51085665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186391155	chr8:51085678-51085679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16914376	chr8:51085681-51085682	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532200187	chr8:51085682-51085683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191200177	chr8:51085712-51085713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562623559	chr8:51085735-51085736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182287999	chr8:51085757-51085758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185319602	chr8:51085769-51085770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567273381	chr8:51085771-51085772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543040456	chr8:51085824-51085825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137997733	chr8:51085839-51085840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11995916	chr8:51085854-51085855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571454590	chr8:51085876-51085877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143154291	chr8:51085893-51085894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528602875	chr8:51085945-51085946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369045685	chr8:51085959-51085960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191257112	chr8:51085976-51085977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575764305	chr8:51086010-51086011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551859743	chr8:51086019-51086020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536925358	chr8:51086086-51086087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148236149	chr8:51086145-51086146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16914384	chr8:51086209-51086210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540272755	chr8:51086226-51086227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115266513	chr8:51086257-51086258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576902755	chr8:51086281-51086282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543984595	chr8:51086290-51086291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12544313	chr8:51086331-51086332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs16914386	chr8:51086359-51086360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541680066	chr8:51086378-51086379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35017349	chr8:51086408-51086409	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533201787	chr8:51086429-51086430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs13266296	chr8:51086493-51086494	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528463981	chr8:51086512-51086513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546617129	chr8:51086529-51086530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs571635620	chr8:51086534-51086535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs34722367	chr8:51086564-51086565	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550818349	chr8:51086679-51086680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535354171	chr8:51086703-51086704	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554964764	chr8:51086761-51086762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142792075	chr8:51086762-51086763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs183067260	chr8:51086766-51086767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565290513	chr8:51086769-51086770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs368869314	chr8:51086814-51086815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51082600-51086400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51084600-51086000	Enhancers	NH-A	brain
3	chr8:51085200-51086000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:51085200-51086000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:51085400-51085600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
6	chr8:51085600-51091200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:51086400-51087000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:51087000-51087200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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