Variant report

Variant	esv3584889
Chromosome Location	chr8:52188402-52197148
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	chr8:52189412..52191198-chr8:52195033..52197163,2	MCF-7	breast:
2	chr8:52189412..52191198-chr8:52195033..52197163,2	MCF-7	breast:

Extended variants
information (count: 348 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144095518	chr8:52188451-52188452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527734682	chr8:52188468-52188469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7818297	chr8:52188501-52188502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190232638	chr8:52188535-52188536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532068319	chr8:52188536-52188537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537735648	chr8:52188549-52188550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34668355	chr8:52188605-52188606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28486051	chr8:52188627-52188628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535661074	chr8:52188630-52188631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554363147	chr8:52188658-52188659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558533780	chr8:52188695-52188696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539510578	chr8:52188717-52188718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557801883	chr8:52188738-52188739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575931550	chr8:52188787-52188788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543727616	chr8:52188789-52188790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142965171	chr8:52188796-52188797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73573901	chr8:52188817-52188818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540830230	chr8:52188834-52188835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559094863	chr8:52188836-52188837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181486758	chr8:52188838-52188839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574077452	chr8:52188860-52188861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527797359	chr8:52188911-52188912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113772300	chr8:52188944-52188945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564533987	chr8:52188969-52188970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531608481	chr8:52189050-52189051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187015237	chr8:52189068-52189069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562249924	chr8:52189102-52189103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553510268	chr8:52189108-52189109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533955633	chr8:52189130-52189131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377649324	chr8:52189163-52189164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529562006	chr8:52189165-52189166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573252774	chr8:52189182-52189183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566240193	chr8:52189185-52189186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147493116	chr8:52189264-52189265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553836405	chr8:52189292-52189293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540888876	chr8:52189359-52189360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551477516	chr8:52189384-52189385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569680142	chr8:52189385-52189386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190905982	chr8:52189437-52189438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16915954	chr8:52189472-52189473	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573874541	chr8:52189501-52189502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534571409	chr8:52189535-52189536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559031370	chr8:52189555-52189556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552785458	chr8:52189559-52189560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6991317	chr8:52189596-52189597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139957796	chr8:52189601-52189602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58535627	chr8:52189605-52189606	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142946230	chr8:52189606-52189607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543452238	chr8:52189621-52189622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541908918	chr8:52189667-52189668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52180400-52189400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:52184200-52197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:52185600-52188600	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:52188000-52191200	Enhancers	Fetal Brain Male	brain
5	chr8:52188200-52191200	Enhancers	Brain Germinal Matrix	brain
6	chr8:52188800-52191200	Enhancers	Fetal Brain Female	brain
7	chr8:52189200-52190800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:52189400-52189600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:52189400-52190200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:52189400-52190400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:52189400-52190400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:52189600-52189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:52190200-52193800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:52190400-52191400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:52191600-52191800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:52193800-52194000	Enhancers	Pancreas	Pancrea
17	chr8:52193800-52194400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:52193800-52194400	Enhancers	Fetal Lung	lung

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