Variant report

Variant	nsv611443
Chromosome Location	chr8:63036600-63039751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569632774	chr8:63036603-63036604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185858925	chr8:63036624-63036625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552572453	chr8:63036651-63036652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571169219	chr8:63036668-63036669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188772876	chr8:63036691-63036692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578046534	chr8:63036700-63036701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572459291	chr8:63036742-63036743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553490464	chr8:63036777-63036778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372494625	chr8:63036819-63036820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574957590	chr8:63036824-63036825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141489457	chr8:63036835-63036836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557068421	chr8:63036857-63036858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543956872	chr8:63036880-63036881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575214906	chr8:63036891-63036892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545842480	chr8:63036936-63036937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565025669	chr8:63037006-63037007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147453108	chr8:63037042-63037043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540968672	chr8:63037068-63037069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191299587	chr8:63037079-63037080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541536743	chr8:63037110-63037111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116829675	chr8:63037117-63037118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57157132	chr8:63037136-63037137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557444681	chr8:63037139-63037140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573890838	chr8:63037224-63037225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542852829	chr8:63037242-63037243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563400784	chr8:63037258-63037259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530515553	chr8:63037269-63037270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139901325	chr8:63037292-63037293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570361599	chr8:63037333-63037334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7013507	chr8:63037358-63037359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147434711	chr8:63037435-63037436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139620408	chr8:63037438-63037439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535680850	chr8:63037442-63037443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557035774	chr8:63037471-63037472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149931396	chr8:63037546-63037547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145030802	chr8:63037560-63037561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183492600	chr8:63037568-63037569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188622107	chr8:63037594-63037595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541283461	chr8:63037724-63037725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117508463	chr8:63037735-63037736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148634538	chr8:63037737-63037738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544940102	chr8:63037750-63037751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564559161	chr8:63037753-63037754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372444574	chr8:63037794-63037795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542093096	chr8:63037803-63037804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563362316	chr8:63037819-63037820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530579077	chr8:63037853-63037854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142129856	chr8:63037887-63037888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564077346	chr8:63037888-63037889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569832431	chr8:63037899-63037900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63034000-63038200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63034600-63037400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:63037200-63039600	Enhancers	Brain Germinal Matrix	brain
4	chr8:63037400-63038000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:63038200-63038600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:63039200-63039400	Enhancers	Aorta	Aorta

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