Variant report

Variant	esv3393662
Chromosome Location	chr8:52570050-52571512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181270134	chr8:52570057-52570058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10958294	chr8:52570128-52570129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555068437	chr8:52570152-52570153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572920703	chr8:52570166-52570167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374990827	chr8:52570235-52570236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540429698	chr8:52570260-52570261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187136260	chr8:52570261-52570262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558410706	chr8:52570266-52570267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576775891	chr8:52570313-52570314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73574256	chr8:52570358-52570359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562102312	chr8:52570383-52570384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529642555	chr8:52570413-52570414	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79099665	chr8:52570482-52570483	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560208256	chr8:52570484-52570485	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528661702	chr8:52570501-52570502	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189016379	chr8:52570589-52570590	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574274426	chr8:52570599-52570600	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373490867	chr8:52570614-52570615	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571965401	chr8:52570628-52570629	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532815094	chr8:52570643-52570644	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551299985	chr8:52570684-52570685	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569248120	chr8:52570707-52570708	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142526225	chr8:52570723-52570724	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114033425	chr8:52570816-52570817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532648388	chr8:52570904-52570905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34771782	chr8:52570905-52570906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371898888	chr8:52570922-52570923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76685737	chr8:52570932-52570933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201660128	chr8:52570933-52570934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78735628	chr8:52570934-52570935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199987440	chr8:52570942-52570943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74321066	chr8:52570943-52570944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397789481	chr8:52570951-52570952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181984044	chr8:52570954-52570955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558373628	chr8:52570957-52570958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16916671	chr8:52570979-52570980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370556215	chr8:52570980-52570981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556058378	chr8:52571019-52571020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574316634	chr8:52571041-52571042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150928036	chr8:52571089-52571090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559968793	chr8:52571100-52571101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572151749	chr8:52571125-52571126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545591914	chr8:52571132-52571133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73678937	chr8:52571190-52571191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532775374	chr8:52571233-52571234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140799110	chr8:52571245-52571246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545350706	chr8:52571270-52571271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563211615	chr8:52571300-52571301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551207983	chr8:52571328-52571329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565155680	chr8:52571359-52571360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52559600-52570400	Weak transcription	Left Ventricle	heart
2	chr8:52563400-52573400	Weak transcription	Right Atrium	heart
3	chr8:52566400-52580800	Weak transcription	Aorta	Aorta
4	chr8:52566800-52575200	Weak transcription	Fetal Lung	lung
5	chr8:52566800-52577400	Weak transcription	Psoas Muscle	Psoas
6	chr8:52568200-52577000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:52568600-52576000	Weak transcription	Fetal Heart	heart
8	chr8:52570400-52570800	Genic enhancers	Left Ventricle	heart
9	chr8:52570600-52570800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:52570800-52575600	Weak transcription	Left Ventricle	heart

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