Variant report

Variant	esv3443913
Chromosome Location	chr8:58441398-58443346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543793853	chr8:58441406-58441407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563873710	chr8:58441463-58441464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114473331	chr8:58441476-58441477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561663380	chr8:58441482-58441483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6980802	chr8:58441502-58441503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189408896	chr8:58441546-58441547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182023042	chr8:58441561-58441562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115982869	chr8:58441578-58441579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551860224	chr8:58441584-58441585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150195075	chr8:58441588-58441589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58638644	chr8:58441596-58441597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541096913	chr8:58441599-58441600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547861618	chr8:58441600-58441601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34204013	chr8:58441634-58441635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568371970	chr8:58441642-58441643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199594577	chr8:58441677-58441678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533859456	chr8:58441698-58441699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114592595	chr8:58441708-58441709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570662360	chr8:58441720-58441721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539638539	chr8:58441728-58441729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559132597	chr8:58441790-58441791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189349318	chr8:58441804-58441805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544619717	chr8:58441815-58441816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181647921	chr8:58441817-58441818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147068304	chr8:58441819-58441820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373991153	chr8:58441821-58441822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574745047	chr8:58441858-58441859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79188709	chr8:58441929-58441930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369453210	chr8:58441930-58441931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564272724	chr8:58441937-58441938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113128897	chr8:58441960-58441961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116315453	chr8:58441995-58441996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115743282	chr8:58442020-58442021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2053898	chr8:58442024-58442025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531285130	chr8:58442128-58442129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146349270	chr8:58442150-58442151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549980695	chr8:58442155-58442156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60574552	chr8:58442158-58442159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548240466	chr8:58442176-58442177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7831743	chr8:58442193-58442194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561909753	chr8:58442196-58442197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529596777	chr8:58442239-58442240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547825176	chr8:58442274-58442275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35391832	chr8:58442278-58442279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36039467	chr8:58442279-58442280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3048823	chr8:58442280-58442281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386412841	chr8:58442295-58442296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397776299	chr8:58442296-58442297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564903773	chr8:58442321-58442322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112958601	chr8:58442349-58442350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
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
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
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58438600-58443800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:58438800-58443800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:58438800-58444000	Weak transcription	NHDF-Ad	bronchial
4	chr8:58439000-58444000	Weak transcription	HSMM	muscle
5	chr8:58439200-58444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:58439800-58443800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:58441000-58442000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:58441800-58444000	Enhancers	Fetal Brain Male	brain
9	chr8:58442000-58443000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:58442800-58443600	Enhancers	Fetal Heart	heart
11	chr8:58442800-58444000	Enhancers	Fetal Brain Female	brain
12	chr8:58443000-58443200	Enhancers	Fetal Kidney	kidney
13	chr8:58443000-58443200	Enhancers	Placenta	Placenta
14	chr8:58443000-58443200	Enhancers	Right Atrium	heart
15	chr8:58443000-58443400	Enhancers	Fetal Muscle Leg	muscle
16	chr8:58443000-58443600	Enhancers	Colon Smooth Muscle	Colon
17	chr8:58443000-58445000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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