Variant report

Variant	nsv968558
Chromosome Location	chr8:51576756-51590786
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	chr8:51590048..51591794-chr8:51592149..51596284,3	K562	blood:

Extended variants
information (count: 624 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532459112	chr8:51576779-51576780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551056513	chr8:51576798-51576799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569297970	chr8:51576799-51576800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139022779	chr8:51576808-51576809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555038363	chr8:51576813-51576814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140693591	chr8:51576837-51576838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143052886	chr8:51576898-51576899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148190630	chr8:51576923-51576924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181511752	chr8:51576927-51576928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537499709	chr8:51576928-51576929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556222400	chr8:51576933-51576934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570181304	chr8:51576962-51576963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141221219	chr8:51576977-51576978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541400515	chr8:51576979-51576980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559735617	chr8:51576985-51576986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571972116	chr8:51576987-51576988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10099354	chr8:51577030-51577031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186042500	chr8:51577037-51577038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531529424	chr8:51577066-51577067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10110050	chr8:51577082-51577083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562985650	chr8:51577094-51577095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530247651	chr8:51577205-51577206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548574942	chr8:51577206-51577207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566887640	chr8:51577215-51577216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534456130	chr8:51577219-51577220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150738615	chr8:51577242-51577243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571106229	chr8:51577291-51577292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58540522	chr8:51577315-51577316	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs137966145	chr8:51577340-51577341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189229721	chr8:51577382-51577383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373109472	chr8:51577401-51577402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56404315	chr8:51577414-51577415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571710335	chr8:51577428-51577429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545526695	chr8:51577435-51577436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564395690	chr8:51577437-51577438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576293670	chr8:51577462-51577463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543581983	chr8:51577515-51577516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182515837	chr8:51577527-51577528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143644897	chr8:51577535-51577536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367914985	chr8:51577555-51577556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7818970	chr8:51577580-51577581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560479389	chr8:51577583-51577584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187311021	chr8:51577631-51577632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56054011	chr8:51577640-51577641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147181926	chr8:51577646-51577647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538176745	chr8:51577652-51577653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550312673	chr8:51577689-51577690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568322444	chr8:51577765-51577766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73569441	chr8:51577770-51577771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140613103	chr8:51577775-51577776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51570200-51595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51575800-51577600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:51575800-51578600	Weak transcription	HUVEC	blood vessel
4	chr8:51576200-51577200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:51577200-51577400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:51578600-51579000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:51578600-51579000	Enhancers	NH-A	brain
8	chr8:51578600-51579200	Enhancers	HUVEC	blood vessel
9	chr8:51579800-51580200	Active TSS	Liver	Liver
10	chr8:51588600-51589000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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