Variant report

Variant	esv3479393
Chromosome Location	chr8:66759049-66760714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:66760672-66760782	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66751463..66756785-chr8:66757093..66762344,8	MCF-7	breast:
2	chr8:66752979..66755042-chr8:66757030..66760922,3	MCF-7	breast:
3	chr8:66755086..66757057-chr8:66757170..66760034,2	MCF-7	breast:

Variant related genes	Relation type
PDE7A	TF binding region
ENSG00000205268	chromatin interactions
ENSG00000272192	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61575731	chr8:66759053-66759054	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376917422	chr8:66759103-66759104	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77301640	chr8:66759126-66759127	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74989985	chr8:66759127-66759128	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553466006	chr8:66759164-66759165	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs75340123	chr8:66759235-66759236	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572521339	chr8:66759249-66759250	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539814606	chr8:66759256-66759257	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191445630	chr8:66759374-66759375	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs139354194	chr8:66759378-66759379	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542151518	chr8:66759427-66759428	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562136038	chr8:66759439-66759440	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs150011721	chr8:66759513-66759514	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552652476	chr8:66759515-66759516	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570928268	chr8:66759517-66759518	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528571893	chr8:66759580-66759581	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181406817	chr8:66759593-66759594	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs79619408	chr8:66759632-66759633	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186170616	chr8:66759648-66759649	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145222228	chr8:66759649-66759650	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570756259	chr8:66759732-66759733	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539224428	chr8:66759774-66759775	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557453328	chr8:66759811-66759812	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572632260	chr8:66759812-66759813	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539926410	chr8:66759848-66759849	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554986284	chr8:66759851-66759852	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573555826	chr8:66759968-66759969	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533260228	chr8:66759972-66759973	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542514932	chr8:66760011-66760012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563790577	chr8:66760038-66760039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142354530	chr8:66760040-66760041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546444128	chr8:66760047-66760048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376666264	chr8:66760103-66760104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528635890	chr8:66760296-66760297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547111588	chr8:66760298-66760299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568466612	chr8:66760347-66760348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs34756042	chr8:66760380-66760381	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190087673	chr8:66760449-66760450	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369079442	chr8:66760452-66760453	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550866704	chr8:66760515-66760516	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs117087682	chr8:66760558-66760559	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146306400	chr8:66760568-66760569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs147872724	chr8:66760576-66760577	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566323149	chr8:66760643-66760644	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs79068972	chr8:66760655-66760656	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66759400-66760000	Enhancers	GM12878-XiMat	blood
2	chr8:66760000-66760800	Weak transcription	GM12878-XiMat	blood
3	chr8:66760600-66761000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr8:66760600-66761200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:66760600-66761400	Enhancers	Primary neutrophils fromperipheralblood	blood

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