Variant report

Variant	esv3444553
Chromosome Location	chr8:52446249-52448597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561104590	chr8:52446289-52446290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368648273	chr8:52446326-52446327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528676449	chr8:52446335-52446336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547241471	chr8:52446347-52446348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372818755	chr8:52446377-52446378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200176244	chr8:52446378-52446379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200970333	chr8:52446388-52446389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376266169	chr8:52446398-52446399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571824263	chr8:52446412-52446413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539351354	chr8:52446428-52446429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550691958	chr8:52446430-52446431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569283946	chr8:52446461-52446462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536700669	chr8:52446469-52446470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555113855	chr8:52446472-52446473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573041262	chr8:52446500-52446501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79442988	chr8:52446614-52446615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371752611	chr8:52446641-52446642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186934971	chr8:52446643-52446644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577049550	chr8:52446647-52446648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544540139	chr8:52446653-52446654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562298503	chr8:52446655-52446656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542522041	chr8:52446661-52446662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369348559	chr8:52446695-52446696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541490250	chr8:52446718-52446719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144409015	chr8:52446733-52446734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377338922	chr8:52446759-52446760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202154487	chr8:52446768-52446769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527409833	chr8:52446788-52446789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146598964	chr8:52446789-52446790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201369444	chr8:52446801-52446802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532693462	chr8:52446811-52446812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527854166	chr8:52446813-52446814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192194810	chr8:52446814-52446815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569237972	chr8:52446871-52446872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536663898	chr8:52446902-52446903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368357172	chr8:52446913-52446914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548674790	chr8:52446980-52446981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566950270	chr8:52447043-52447044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541465330	chr8:52447046-52447047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542961408	chr8:52447082-52447083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372287414	chr8:52447083-52447084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559947000	chr8:52447104-52447105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10103888	chr8:52447125-52447126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554665534	chr8:52447192-52447193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574719206	chr8:52447198-52447199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534338178	chr8:52447490-52447491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373829803	chr8:52447534-52447535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112468220	chr8:52447691-52447692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200323391	chr8:52447704-52447705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576969190	chr8:52447744-52447745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52441600-52453000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:52442600-52448400	Weak transcription	Left Ventricle	heart
3	chr8:52448400-52449000	Enhancers	Left Ventricle	heart
4	chr8:52448400-52449200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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