Variant report

Variant	esv3380363
Chromosome Location	chr8:8510337-8510817
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	chr8:8484452..8486577-chr8:8508195..8510591,2	MCF-7	breast:
2	chr8:8502758..8504933-chr8:8507761..8510405,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184639676	chr8:8510403-8510404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556013077	chr8:8510414-8510415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78438234	chr8:8510422-8510423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28634884	chr8:8510456-8510457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79002207	chr8:8510463-8510464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541527952	chr8:8510503-8510504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555365004	chr8:8510509-8510510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572026459	chr8:8510510-8510511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188777672	chr8:8510528-8510529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559884608	chr8:8510529-8510530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12676260	chr8:8510534-8510535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12675471	chr8:8510543-8510544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543971666	chr8:8510546-8510547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573004557	chr8:8510609-8510610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541932011	chr8:8510614-8510615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549179780	chr8:8510632-8510633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117547187	chr8:8510650-8510651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144294664	chr8:8510661-8510662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547327982	chr8:8510682-8510683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570391836	chr8:8510684-8510685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539289607	chr8:8510688-8510689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556339653	chr8:8510709-8510710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6983713	chr8:8510715-8510716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192873369	chr8:8510749-8510750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78201629	chr8:8510757-8510758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185851082	chr8:8510763-8510764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572114976	chr8:8510781-8510782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541027023	chr8:8510789-8510790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8489200-8513000	Weak transcription	Gastric	stomach
2	chr8:8501000-8512000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:8505000-8513000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:8506800-8522000	Weak transcription	Right Atrium	heart
5	chr8:8507600-8511000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:8507600-8512400	Weak transcription	Brain Germinal Matrix	brain
7	chr8:8507600-8513000	Weak transcription	Stomach Mucosa	stomach
8	chr8:8507600-8513400	Weak transcription	Fetal Kidney	kidney
9	chr8:8507800-8513000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:8507800-8513000	Weak transcription	Fetal Lung	lung
11	chr8:8508000-8522200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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