Variant report

Variant	nsv972529
Chromosome Location	chr8:69561897-69568157
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	chr8:69553820..69556062-chr8:69561898..69564089,2	MCF-7	breast:

Extended variants
information (count: 220 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555462629	chr8:69561987-69561988	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187182373	chr8:69562001-69562002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12543555	chr8:69562014-69562015	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs16934837	chr8:69562029-69562030	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201565912	chr8:69562080-69562081	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs55994036	chr8:69562089-69562090	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560582714	chr8:69562104-69562105	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111806891	chr8:69562121-69562122	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542626330	chr8:69562166-69562167	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563025556	chr8:69562173-69562174	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368529914	chr8:69562186-69562187	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141704766	chr8:69562229-69562230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539210097	chr8:69562237-69562238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550399316	chr8:69562256-69562257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10087440	chr8:69562268-69562269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs376081287	chr8:69562292-69562293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112863462	chr8:69562293-69562294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201412481	chr8:69562302-69562303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188628776	chr8:69562329-69562330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116830871	chr8:69562402-69562403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566627614	chr8:69562429-69562430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57624575	chr8:69562432-69562433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145567774	chr8:69562438-69562439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569014475	chr8:69562458-69562459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60037160	chr8:69562467-69562468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397945249	chr8:69562469-69562470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537937191	chr8:69562546-69562547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373998698	chr8:69562621-69562622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62520961	chr8:69562645-69562646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544738836	chr8:69562679-69562680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193273421	chr8:69562680-69562681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546903563	chr8:69562685-69562686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57112362	chr8:69562732-69562733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371291316	chr8:69562785-69562786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62520962	chr8:69562800-69562801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs13258211	chr8:69562815-69562816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574227730	chr8:69562864-69562865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543040592	chr8:69562869-69562870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372864971	chr8:69562875-69562876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367906531	chr8:69562904-69562905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545099526	chr8:69562956-69562957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560660006	chr8:69562960-69562961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532985560	chr8:69562961-69562962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540033033	chr8:69562963-69562964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370494260	chr8:69562965-69562966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560473736	chr8:69563003-69563004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373651766	chr8:69563006-69563007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150278750	chr8:69563041-69563042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529166821	chr8:69563078-69563079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189427456	chr8:69563096-69563097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69545200-69572800	Weak transcription	Aorta	Aorta
2	chr8:69559800-69562200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:69560400-69562200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:69560400-69562200	Enhancers	NHLF	lung
5	chr8:69560800-69562000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:69560800-69562000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:69560800-69562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:69560800-69562200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:69561000-69562200	Enhancers	Fetal Lung	lung
10	chr8:69561200-69562000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:69561200-69562400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:69561400-69562000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:69561400-69562600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:69561600-69562200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:69561600-69562200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:69561600-69562200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:69561800-69562200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:69562000-69563000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:69562000-69563000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:69562000-69563200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:69562200-69563200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:69562200-69563600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:69563000-69563200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:69563000-69563600	Enhancers	Pancreas	Pancrea
25	chr8:69563400-69563600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:69563400-69563600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:69563600-69563800	Enhancers	H1 Cell Line	embryonic stem cell

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