Variant report

Variant	esv3480458
Chromosome Location	chr8:50528831-50534744
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	chr8:50521960..50524416-chr8:50526468..50529383,2	MCF-7	breast:
2	chr8:50533493..50536467-chr8:50538326..50540996,2	MCF-7	breast:

Extended variants
information (count: 213 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35241285	chr8:50529416-50529417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182315935	chr8:50529425-50529426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184360548	chr8:50529438-50529439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547736128	chr8:50529489-50529490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566843902	chr8:50529573-50529574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189302600	chr8:50529599-50529600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373295156	chr8:50529680-50529681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559184805	chr8:50529732-50529733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570982638	chr8:50529755-50529756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7839653	chr8:50529761-50529762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574940975	chr8:50529794-50529795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556913112	chr8:50529809-50529810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554174996	chr8:50529942-50529943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61646502	chr8:50529948-50529949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139570202	chr8:50529980-50529981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573741208	chr8:50529982-50529983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368862682	chr8:50530037-50530038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565183725	chr8:50530056-50530057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532246757	chr8:50530080-50530081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373052562	chr8:50530135-50530136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562246947	chr8:50530145-50530146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529712344	chr8:50530150-50530151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6472555	chr8:50530153-50530154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566161614	chr8:50530184-50530185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536258781	chr8:50530192-50530193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372230969	chr8:50530219-50530220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527269402	chr8:50530319-50530320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367570124	chr8:50530320-50530321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577876215	chr8:50530325-50530326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552639324	chr8:50530347-50530348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553388222	chr8:50530391-50530392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538060445	chr8:50530400-50530401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112982260	chr8:50530408-50530409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543372488	chr8:50530444-50530445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149309752	chr8:50530460-50530461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144542670	chr8:50530466-50530467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554287467	chr8:50530470-50530471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572520765	chr8:50530500-50530501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148490784	chr8:50530519-50530520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573280183	chr8:50530539-50530540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386725140	chr8:50530579-50530580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60998432	chr8:50530581-50530582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544097426	chr8:50530585-50530586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562305835	chr8:50530592-50530593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574275325	chr8:50530629-50530630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541551965	chr8:50530634-50530635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185723506	chr8:50530642-50530643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35629523	chr8:50530696-50530697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559810639	chr8:50530721-50530722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7015900	chr8:50530732-50530733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Ovarian cancer	22174824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50529400-50530600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:50530600-50531600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:50531600-50533000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:50533000-50533600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:50533600-50533800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:50533800-50534600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:50534600-50535200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:50534600-50535200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:50534600-50535400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:50534600-50535600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:50534600-50535600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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