Variant report

Variant	esv3507579
Chromosome Location	chr8:50008449-50010347
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	chr8:50006800..50008317-chr8:50008393..50010023,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6472220	chr8:50008477-50008478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562022533	chr8:50008528-50008529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77586376	chr8:50008534-50008535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141244856	chr8:50008568-50008569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560475532	chr8:50008587-50008588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553769950	chr8:50008603-50008604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527591765	chr8:50008612-50008613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183556222	chr8:50008631-50008632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150215125	chr8:50008649-50008650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188600957	chr8:50008657-50008658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531174822	chr8:50008682-50008683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112749331	chr8:50008716-50008717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549883326	chr8:50008720-50008721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567794798	chr8:50008723-50008724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535700367	chr8:50008733-50008734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553939152	chr8:50008736-50008737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565897056	chr8:50008737-50008738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529445931	chr8:50008747-50008748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150527867	chr8:50008751-50008752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540146720	chr8:50008811-50008812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7003799	chr8:50008838-50008839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368649239	chr8:50008932-50008933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191925064	chr8:50008968-50008969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113114316	chr8:50009007-50009008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12546839	chr8:50009020-50009021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541495990	chr8:50009047-50009048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560390821	chr8:50009053-50009054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182675068	chr8:50009089-50009090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76434040	chr8:50009142-50009143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564209958	chr8:50009159-50009160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370331731	chr8:50009189-50009190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531366241	chr8:50009191-50009192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549510681	chr8:50009192-50009193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567858341	chr8:50009195-50009196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7821013	chr8:50009243-50009244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186999120	chr8:50009253-50009254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202102820	chr8:50009313-50009314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539627631	chr8:50009330-50009331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558449503	chr8:50009331-50009332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570246879	chr8:50009332-50009333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537494051	chr8:50009333-50009334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555806205	chr8:50009334-50009335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191457490	chr8:50009361-50009362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541559077	chr8:50009441-50009442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78692631	chr8:50009463-50009464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572240538	chr8:50009499-50009500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561530735	chr8:50009527-50009528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545657709	chr8:50009532-50009533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564452541	chr8:50009541-50009542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531501141	chr8:50009585-50009586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50005200-50009200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:50008200-50008800	Enhancers	K562	blood
3	chr8:50008200-50015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:50008200-50015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:50009000-50010000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:50009200-50010000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:50009200-50010200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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