Variant report

Variant	esv3364354
Chromosome Location	chr8:110494976-110496924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110492889..110495153-chr8:110496090..110498329,2	MCF-7	breast:
2	chr8:110491121..110493712-chr8:110493893..110495907,3	MCF-7	breast:
3	chr8:110492889..110495153-chr8:110496090..110498329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205038	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186120139	chr8:110494978-110494979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117468670	chr8:110494992-110494993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528212225	chr8:110495002-110495003	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548324534	chr8:110495034-110495035	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563415770	chr8:110495035-110495036	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531408163	chr8:110495135-110495136	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190983793	chr8:110495171-110495172	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73704029	chr8:110495181-110495182	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2844254	chr8:110495192-110495193	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs547355311	chr8:110495232-110495233	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185864245	chr8:110495249-110495250	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376033549	chr8:110495253-110495254	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201747707	chr8:110495263-110495264	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372689636	chr8:110495266-110495267	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76072933	chr8:110495303-110495304	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376081155	chr8:110495377-110495378	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34482021	chr8:110495387-110495388	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531130454	chr8:110495507-110495508	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549922819	chr8:110495550-110495551	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569720928	chr8:110495583-110495584	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560922230	chr8:110495630-110495631	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536064145	chr8:110495670-110495671	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs33986253	chr8:110495763-110495764	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555964538	chr8:110495765-110495766	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201945432	chr8:110495766-110495767	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377733482	chr8:110495809-110495810	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371152590	chr8:110495824-110495825	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs930877	chr8:110495832-110495833	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs114928732	chr8:110495865-110495866	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558149151	chr8:110495866-110495867	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116454162	chr8:110495870-110495871	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543366818	chr8:110495878-110495879	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182627595	chr8:110495982-110495983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573838868	chr8:110496003-110496004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188156991	chr8:110496054-110496055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140652787	chr8:110496132-110496133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13255406	chr8:110496156-110496157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1947562	chr8:110496157-110496158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2607633	chr8:110496168-110496169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs73704033	chr8:110496605-110496606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138309734	chr8:110496610-110496611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559779536	chr8:110496625-110496626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573271943	chr8:110496653-110496654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141867175	chr8:110496692-110496693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187513026	chr8:110496715-110496716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543734669	chr8:110496720-110496721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563298676	chr8:110496730-110496731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548150253	chr8:110496735-110496736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528876514	chr8:110496752-110496753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549076136	chr8:110496850-110496851	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110487800-110495000	Weak transcription	Liver	Liver
2	chr8:110495000-110495200	Enhancers	Liver	Liver
3	chr8:110495000-110496200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:110496600-110499400	Enhancers	HUES64 Cell Line	embryonic stem cell

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