Variant report

Variant	nsv520800
Chromosome Location	chr8:51365953-51371910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 261 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13258880	chr8:51365953-51365954	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs575553283	chr8:51365960-51365961	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141902096	chr8:51365962-51365963	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118142839	chr8:51366015-51366016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561197578	chr8:51366021-51366022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528420058	chr8:51366034-51366035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550003824	chr8:51366035-51366036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16914917	chr8:51366036-51366037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559708465	chr8:51366096-51366097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533129395	chr8:51366122-51366123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551899831	chr8:51366124-51366125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143526831	chr8:51366155-51366156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12114446	chr8:51366162-51366163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549144358	chr8:51366177-51366178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567491582	chr8:51366222-51366223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186550670	chr8:51366269-51366270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6984653	chr8:51366292-51366293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146755737	chr8:51366294-51366295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577567685	chr8:51366295-51366296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529220612	chr8:51366376-51366377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149741100	chr8:51366388-51366389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538251540	chr8:51366397-51366398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557056117	chr8:51366402-51366403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6988898	chr8:51366424-51366425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542718681	chr8:51366431-51366432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189755767	chr8:51366439-51366440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147724898	chr8:51366502-51366503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117027116	chr8:51366514-51366515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540524639	chr8:51366558-51366559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565031394	chr8:51366576-51366577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574433387	chr8:51366646-51366647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545059664	chr8:51366670-51366671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140514441	chr8:51366683-51366684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77951698	chr8:51366732-51366733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530931766	chr8:51366741-51366742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549032030	chr8:51366783-51366784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567528753	chr8:51366784-51366785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528613912	chr8:51366794-51366795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182454203	chr8:51366815-51366816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187926912	chr8:51366838-51366839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192557428	chr8:51366839-51366840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556706398	chr8:51366854-51366855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568837587	chr8:51366863-51366864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536364677	chr8:51366881-51366882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183278264	chr8:51366931-51366932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187349462	chr8:51366984-51366985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34179165	chr8:51367008-51367009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573122236	chr8:51367084-51367085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540044335	chr8:51367116-51367117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558847648	chr8:51367127-51367128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51364800-51366200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51364800-51369800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:51365600-51366000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr8:51365800-51366000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
5	chr8:51365800-51375800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:51366200-51369000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:51369000-51370600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:51369400-51370400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:51369800-51370200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:51369800-51370600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:51370600-51374400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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