Variant report

Variant	nsv818624
Chromosome Location	chr8:50882830-50945075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50709168..50710848-chr8:50931158..50933465,2	MCF-7	breast:
2	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:
3	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:
4	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:
5	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:

Extended variants
information (count: 1856 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9650160	chr8:50882830-50882831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551202230	chr8:50882886-50882887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75030343	chr8:50882893-50882894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527441537	chr8:50882920-50882921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530730277	chr8:50882927-50882928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189537851	chr8:50882959-50882960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529893238	chr8:50882964-50882965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149039142	chr8:50882988-50882989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144581312	chr8:50883031-50883032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540135857	chr8:50883038-50883039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559760006	chr8:50883088-50883089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180961900	chr8:50883092-50883093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186378080	chr8:50883183-50883184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78019569	chr8:50883185-50883186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191129847	chr8:50883219-50883220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576538475	chr8:50883223-50883224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543599852	chr8:50883246-50883247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183393570	chr8:50883265-50883266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187499062	chr8:50883278-50883279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16914117	chr8:50883285-50883286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559266232	chr8:50883344-50883345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573548326	chr8:50883359-50883360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552015663	chr8:50883380-50883381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532813363	chr8:50883413-50883414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545044100	chr8:50883433-50883434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372470326	chr8:50883472-50883473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568907533	chr8:50883528-50883529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190787244	chr8:50883535-50883536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530666452	chr8:50883541-50883542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183232946	chr8:50883561-50883562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377004827	chr8:50883570-50883571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528380551	chr8:50883579-50883580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370723325	chr8:50883583-50883584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187900701	chr8:50883602-50883603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539458105	chr8:50883656-50883657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558172001	chr8:50883663-50883664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs318896	chr8:50883668-50883669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537173846	chr8:50883697-50883698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555522895	chr8:50883720-50883721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145342449	chr8:50883725-50883726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148044673	chr8:50883735-50883736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192610915	chr8:50883736-50883737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577527208	chr8:50883741-50883742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544670100	chr8:50883772-50883773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563343107	chr8:50883832-50883833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7012926	chr8:50883844-50883845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542780265	chr8:50883852-50883853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6999827	chr8:50883868-50883869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111476596	chr8:50883878-50883879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188001575	chr8:50883883-50883884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50876000-50889200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50882400-50883000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:50882600-50883400	Enhancers	Fetal Brain Female	brain
4	chr8:50887000-50887600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:50887600-50890000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:50889200-50889600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:50889400-50889800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:50889600-50892000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:50889800-50890800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:50890000-50890200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:50890200-50893600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:50890800-50891000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:50890800-50891200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:50891600-50892400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:50891800-50892400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:50892000-50894000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:50892200-50892600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:50892200-50892600	Enhancers	Liver	Liver
19	chr8:50892200-50892600	Enhancers	Brain Germinal Matrix	brain
20	chr8:50892200-50893000	Enhancers	Fetal Brain Male	brain
21	chr8:50892600-50892800	Flanking Active TSS	Liver	Liver
22	chr8:50892600-50892800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr8:50892600-50893000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:50892600-50893000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:50892600-50893000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr8:50892600-50893000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr8:50892800-50893000	Enhancers	Brain Anterior Caudate	brain
28	chr8:50892800-50893000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:50892800-50893000	Enhancers	Fetal Intestine Small	intestine
30	chr8:50892800-50893000	Enhancers	HMEC	breast
31	chr8:50892800-50893200	Active TSS	Liver	Liver
32	chr8:50892800-50894000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:50892800-50894000	Enhancers	Fetal Intestine Large	intestine
34	chr8:50893000-50893200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:50893000-50893600	Weak transcription	Fetal Intestine Small	intestine
36	chr8:50893000-50894000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:50893000-50894000	Enhancers	Brain Germinal Matrix	brain
38	chr8:50893200-50893600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr8:50893200-50894200	Enhancers	Liver	Liver
40	chr8:50893400-50894200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:50893600-50894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:50893600-50894200	Enhancers	Fetal Intestine Small	intestine
43	chr8:50894000-50895400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:50894000-50898600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:50894200-50895400	Weak transcription	Liver	Liver
46	chr8:50895400-50896600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:50895600-50895800	Enhancers	Liver	Liver
48	chr8:50896200-50896600	Enhancers	Brain Hippocampus Middle	brain
49	chr8:50898600-50901000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:50901000-50901400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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