Variant report

Variant	nsv1033771
Chromosome Location	chr8:85697942-85720299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:85707935..85709870-chr8:85714528..85717320,2	K562	blood:
2	chr1:121483928..121486918-chr8:85710303..85711824,2	K562	blood:
3	chr8:85707935..85709870-chr8:85714528..85717320,2	K562	blood:

Extended variants
information (count: 251 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:251 , 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	rs189331684	chr8:85697942-85697943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181501647	chr8:85697972-85697973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75346100	chr8:85697994-85697995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540384683	chr8:85698018-85698019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146111749	chr8:85698099-85698100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578092390	chr8:85698156-85698157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552849503	chr8:85698200-85698201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369763067	chr8:85698211-85698212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2467211	chr8:85698227-85698228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553658627	chr8:85698239-85698240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187028224	chr8:85698240-85698241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568527289	chr8:85698244-85698245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573390943	chr8:85698269-85698270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534291942	chr8:85698296-85698297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547587535	chr8:85698324-85698325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11785171	chr8:85698339-85698340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189448759	chr8:85698341-85698342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556403047	chr8:85698381-85698382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562144470	chr8:85698398-85698399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372954746	chr8:85698533-85698534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576307702	chr8:85698547-85698548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535075558	chr8:85698552-85698553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554950475	chr8:85698563-85698564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571759737	chr8:85698633-85698634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529354777	chr8:85698650-85698651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540746261	chr8:85698693-85698694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181495716	chr8:85698714-85698715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185245952	chr8:85698715-85698716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34020111	chr8:85698772-85698773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113236957	chr8:85698896-85698897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143643889	chr8:85698911-85698912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533410584	chr8:85698977-85698978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370756176	chr8:85698993-85698994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532082513	chr8:85699006-85699007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548557146	chr8:85699050-85699051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190000603	chr8:85699052-85699053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146819231	chr8:85699124-85699125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566913828	chr8:85699133-85699134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183366750	chr8:85699227-85699228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186294134	chr8:85699233-85699234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539619156	chr8:85699283-85699284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549752175	chr8:85699312-85699313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111855714	chr8:85699346-85699347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192345365	chr8:85699349-85699350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183308411	chr8:85699352-85699353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540604630	chr8:85699374-85699375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554911353	chr8:85699397-85699398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373707310	chr8:85699398-85699399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534149878	chr8:85699421-85699422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557811275	chr8:85699428-85699429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85688600-85700800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:85700800-85701200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:85700800-85701600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:85701000-85701400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:85701000-85701600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:85701400-85701600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:85701600-85702000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:85702000-85704200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:85704200-85704400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:85704200-85704600	Enhancers	Spleen	Spleen
11	chr8:85704200-85704800	Enhancers	Primary T cells from cord blood	blood

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