Variant report

Variant	esv3512694
Chromosome Location	chr8:69577507-69578179
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	chr8:69576551..69578510-chr8:69582270..69584407,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542302776	chr8:69577528-69577529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556124465	chr8:69577545-69577546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201002960	chr8:69577575-69577576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74749746	chr8:69577593-69577594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16934882	chr8:69577637-69577638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574777717	chr8:69577682-69577683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564608695	chr8:69577732-69577733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115165662	chr8:69577745-69577746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148294698	chr8:69577754-69577755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561946747	chr8:69577757-69577758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370489048	chr8:69577768-69577769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541867213	chr8:69577773-69577774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140465801	chr8:69577774-69577775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7012824	chr8:69577819-69577820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550167530	chr8:69577849-69577850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563718352	chr8:69577865-69577866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532375998	chr8:69577871-69577872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367815760	chr8:69577902-69577903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530945869	chr8:69577918-69577919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552231016	chr8:69577943-69577944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552670739	chr8:69577948-69577949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566164942	chr8:69578005-69578006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191259248	chr8:69578014-69578015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2164200	chr8:69578023-69578024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2164201	chr8:69578040-69578041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547613157	chr8:69578050-69578051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62520966	chr8:69578051-69578052	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145416348	chr8:69578056-69578057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369279337	chr8:69578061-69578062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536554863	chr8:69578092-69578093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547275847	chr8:69578132-69578133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556147931	chr8:69578134-69578135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541383055	chr8:69578173-69578174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69574800-69579600	Weak transcription	Aorta	Aorta
2	chr8:69577400-69578000	Enhancers	NHDF-Ad	bronchial
3	chr8:69577600-69577800	Enhancers	Pancreas	Pancrea
4	chr8:69577800-69578400	Weak transcription	Pancreas	Pancrea
5	chr8:69578000-69580800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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