Variant report

Variant	esv3425880
Chromosome Location	chr8:65144248-65146571
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	chr20:45282955..45284476-chr8:65144448..65146443,2	MCF-7	breast:

Extended variants
information (count: 197 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188281205	chr8:65144265-65144266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528966919	chr8:65144325-65144326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181841434	chr8:65144348-65144349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562164123	chr8:65144440-65144441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532730727	chr8:65144472-65144473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551686262	chr8:65144529-65144530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2629628	chr8:65144533-65144534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs72652651	chr8:65144556-65144557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6472137	chr8:65144580-65144581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562984833	chr8:65144623-65144624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72652653	chr8:65144625-65144626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186436703	chr8:65144652-65144653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535976420	chr8:65144658-65144659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557458844	chr8:65144688-65144689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575744569	chr8:65144728-65144729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539822632	chr8:65144745-65144746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558476689	chr8:65144752-65144753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573451496	chr8:65144774-65144775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140659070	chr8:65144799-65144800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190304296	chr8:65144801-65144802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562143095	chr8:65144802-65144803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145754095	chr8:65144812-65144813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543917442	chr8:65144859-65144860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116665600	chr8:65144868-65144869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532792065	chr8:65144869-65144870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544674304	chr8:65144877-65144878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531375248	chr8:65144881-65144882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560438486	chr8:65144972-65144973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527600120	chr8:65145003-65145004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561712578	chr8:65145026-65145027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61347170	chr8:65145035-65145036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183746444	chr8:65145037-65145038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186249601	chr8:65145039-65145040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367906797	chr8:65145056-65145057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370210502	chr8:65145058-65145059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374690886	chr8:65145062-65145063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71257239	chr8:65145068-65145069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13258133	chr8:65145080-65145081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12708017	chr8:65145082-65145083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28737292	chr8:65145084-65145085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28710978	chr8:65145086-65145087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549231640	chr8:65145114-65145115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567484443	chr8:65145116-65145117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13258182	chr8:65145135-65145136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12708018	chr8:65145137-65145138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28707261	chr8:65145139-65145140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28656277	chr8:65145141-65145142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551123757	chr8:65145154-65145155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375021856	chr8:65145166-65145167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57553872	chr8:65145171-65145172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65139200-65146000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65145800-65146000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:65146000-65146400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:65146000-65146400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:65146000-65146600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:65146200-65149800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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