Variant report

Variant	esv2509446
Chromosome Location	chr8:58796020-58797474
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	chr8:58739523..58741052-chr8:58796062..58798224,2	K562	blood:
2	chr8:58792831..58794410-chr8:58796629..58798582,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547923224	chr8:58796070-58796071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571003252	chr8:58796087-58796088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533665701	chr8:58796224-58796225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550239160	chr8:58796230-58796231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114994190	chr8:58796249-58796250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535428366	chr8:58796255-58796256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529138822	chr8:58796260-58796261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548976942	chr8:58796327-58796328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565791094	chr8:58796413-58796414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142448555	chr8:58796416-58796417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145611600	chr8:58796431-58796432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557926592	chr8:58796487-58796488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115303695	chr8:58796537-58796538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141485922	chr8:58796556-58796557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189696571	chr8:58796569-58796570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373437576	chr8:58796573-58796574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146919320	chr8:58796585-58796586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145503595	chr8:58796628-58796629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147565601	chr8:58796641-58796642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142029980	chr8:58796663-58796664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184011257	chr8:58796673-58796674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188996189	chr8:58796690-58796691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13256902	chr8:58796826-58796827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191847189	chr8:58796841-58796842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183761699	chr8:58796873-58796874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78389323	chr8:58796895-58796896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188197927	chr8:58796922-58796923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548962701	chr8:58796951-58796952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535432204	chr8:58796956-58796957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191825345	chr8:58796959-58796960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116656370	chr8:58796963-58796964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571737719	chr8:58796970-58796971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116828246	chr8:58796976-58796977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199935068	chr8:58796994-58796995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533318751	chr8:58797053-58797054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116544620	chr8:58797060-58797061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570197888	chr8:58797065-58797066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143092195	chr8:58797080-58797081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576776278	chr8:58797086-58797087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536593551	chr8:58797088-58797089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149806456	chr8:58797091-58797092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370220276	chr8:58797110-58797111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539943152	chr8:58797129-58797130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572784066	chr8:58797243-58797244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112408739	chr8:58797244-58797245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117440809	chr8:58797257-58797258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575312661	chr8:58797260-58797261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554970044	chr8:58797261-58797262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59681517	chr8:58797306-58797307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563587133	chr8:58797338-58797339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58789200-58804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:58795200-58797200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:58796000-58799400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:58796200-58796800	Enhancers	Stomach Mucosa	stomach
5	chr8:58796200-58797000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:58796600-58799400	Enhancers	NHDF-Ad	bronchial
7	chr8:58796800-58800000	Weak transcription	Stomach Mucosa	stomach
8	chr8:58797000-58801000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:58797200-58797400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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