Variant report

Variant	esv3389141
Chromosome Location	chr8:79128097-79132095
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	chr8:79115332..79117727-chr8:79126761..79129433,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559536547	chr8:79128130-79128131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368326598	chr8:79128141-79128142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559355252	chr8:79128142-79128143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532898131	chr8:79128143-79128144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181006955	chr8:79128170-79128171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397970837	chr8:79128172-79128173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186540843	chr8:79128173-79128174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573538450	chr8:79128177-79128178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545334646	chr8:79128180-79128181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189709904	chr8:79128184-79128185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181774353	chr8:79128193-79128194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186817688	chr8:79128239-79128240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549411434	chr8:79129230-79129231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563546432	chr8:79129273-79129274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530842443	chr8:79129277-79129278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561134925	chr8:79129308-79129309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531635316	chr8:79129325-79129326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113565194	chr8:79129329-79129330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560895419	chr8:79129373-79129374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528168651	chr8:79129419-79129420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137947884	chr8:79129471-79129472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371962361	chr8:79129482-79129483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74954230	chr8:79129541-79129542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533519665	chr8:79129574-79129575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1978660	chr8:79129583-79129584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539313340	chr8:79129594-79129595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200447983	chr8:79129623-79129624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71500592	chr8:79129641-79129642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537384890	chr8:79129685-79129686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548946286	chr8:79129715-79129716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567700421	chr8:79129727-79129728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188194193	chr8:79129740-79129741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192732142	chr8:79129753-79129754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578035955	chr8:79129809-79129810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371987534	chr8:79129830-79129831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538792221	chr8:79129879-79129880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115900073	chr8:79129936-79129937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202197037	chr8:79130005-79130006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575587562	chr8:79130008-79130009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1469552	chr8:79130028-79130029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560856630	chr8:79130062-79130063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183548598	chr8:79130106-79130107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533657275	chr8:79130137-79130138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76014574	chr8:79130175-79130176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188400476	chr8:79130217-79130218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532127065	chr8:79130292-79130293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555476838	chr8:79130295-79130296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533865032	chr8:79130296-79130297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563570492	chr8:79130315-79130316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371492850	chr8:79130351-79130352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79119600-79128400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:79126400-79128200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:79127400-79128200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:79127800-79128200	Enhancers	Fetal Brain Male	brain
5	chr8:79129200-79143800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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