Variant report

Variant	nsv971646
Chromosome Location	chr8:48001011-48002786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533300542	chr8:48001057-48001058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551347541	chr8:48001109-48001110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569719809	chr8:48001189-48001190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537020163	chr8:48001191-48001192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55682030	chr8:48001208-48001209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529564683	chr8:48001270-48001271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147846867	chr8:48001345-48001346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537037396	chr8:48001376-48001377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567455650	chr8:48001416-48001417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543227702	chr8:48001433-48001434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62538824	chr8:48001474-48001475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534785556	chr8:48001495-48001496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184427535	chr8:48001540-48001541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58801280	chr8:48001556-48001557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141456436	chr8:48001557-48001558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539326522	chr8:48001563-48001564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557638357	chr8:48001564-48001565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576125848	chr8:48001694-48001695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143642019	chr8:48001710-48001711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114548743	chr8:48001799-48001800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573729233	chr8:48001881-48001882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151038532	chr8:48001919-48001920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547201414	chr8:48001978-48001979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140957132	chr8:48001981-48001982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78121342	chr8:48002035-48002036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189316056	chr8:48002059-48002060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551284986	chr8:48002063-48002064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563208731	chr8:48002064-48002065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530699813	chr8:48002109-48002110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181900353	chr8:48002123-48002124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535159841	chr8:48002176-48002177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144522966	chr8:48002206-48002207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114577037	chr8:48002219-48002220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145316525	chr8:48002220-48002221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186073322	chr8:48002233-48002234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531239342	chr8:48002240-48002241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557699837	chr8:48002312-48002313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111279434	chr8:48002339-48002340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536946279	chr8:48002361-48002362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570208358	chr8:48002433-48002434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532806303	chr8:48002434-48002435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573519072	chr8:48002446-48002447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190877330	chr8:48002447-48002448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181678573	chr8:48002452-48002453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549326462	chr8:48002459-48002460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117381443	chr8:48002563-48002564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186903018	chr8:48002581-48002582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552661132	chr8:48002605-48002606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530760454	chr8:48002636-48002637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569619076	chr8:48002649-48002650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Lung cancer	18438408	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
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47999200-48012200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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