Variant report

Variant	esv3433754
Chromosome Location	chr8:59031897-59032476
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	chr8:59032115..59032698-chr8:59133894..59134462,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76614706	chr8:59031920-59031921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563595351	chr8:59031925-59031926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529542934	chr8:59031929-59031930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549401092	chr8:59031936-59031937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147008068	chr8:59031955-59031956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192671566	chr8:59031956-59031957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572666240	chr8:59031960-59031961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574281410	chr8:59031965-59031966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571813383	chr8:59031986-59031987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571475426	chr8:59032005-59032006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55877263	chr8:59032047-59032048	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550790938	chr8:59032050-59032051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567605957	chr8:59032073-59032074	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536138973	chr8:59032129-59032130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184712062	chr8:59032301-59032302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572718783	chr8:59032330-59032331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538740891	chr8:59032355-59032356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550298901	chr8:59032370-59032371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6984700	chr8:59032371-59032372	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577821963	chr8:59032378-59032379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138227900	chr8:59032379-59032380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373745353	chr8:59032385-59032386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574030174	chr8:59032386-59032387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542930657	chr8:59032436-59032437	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77136743	chr8:59032461-59032462	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
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
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59011400-59035400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:59011600-59044800	Weak transcription	Spleen	Spleen
3	chr8:59014800-59034400	Weak transcription	Fetal Brain Female	brain
4	chr8:59015200-59058200	Weak transcription	Aorta	Aorta
5	chr8:59015400-59036400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:59015400-59037000	Weak transcription	Psoas Muscle	Psoas
7	chr8:59016600-59033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:59016600-59046200	Weak transcription	Fetal Brain Male	brain
9	chr8:59019400-59036800	Weak transcription	Fetal Kidney	kidney
10	chr8:59020200-59032200	Weak transcription	Brain Germinal Matrix	brain
11	chr8:59020600-59032600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:59021600-59033400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:59021800-59040600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:59021800-59044200	Weak transcription	Fetal Lung	lung
15	chr8:59022400-59050000	Weak transcription	Ovary	ovary
16	chr8:59022800-59033400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:59025600-59032000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:59025800-59034200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:59026000-59050600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:59026200-59033600	Weak transcription	Right Ventricle	heart
21	chr8:59026200-59049800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:59028000-59033400	Weak transcription	HSMMtube	muscle
23	chr8:59028000-59040800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:59028400-59034200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:59028600-59042000	Weak transcription	Lung	lung
26	chr8:59028800-59040600	Weak transcription	NHDF-Ad	bronchial
27	chr8:59029000-59032200	Weak transcription	Fetal Heart	heart
28	chr8:59029000-59033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:59029000-59033600	Weak transcription	HSMM	muscle
30	chr8:59029000-59058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:59029400-59035400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:59029600-59033400	Weak transcription	Pancreas	Pancrea
33	chr8:59029600-59033400	Weak transcription	Right Atrium	heart
34	chr8:59030000-59033400	Weak transcription	Fetal Stomach	stomach
35	chr8:59030000-59034600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:59030800-59032800	Enhancers	Left Ventricle	heart
37	chr8:59031000-59035400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:59031200-59032400	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:59031200-59034400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:59031200-59035000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:59031400-59035200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:59031400-59035800	Enhancers	HepG2	liver
43	chr8:59031600-59032000	Enhancers	Liver	Liver
44	chr8:59031800-59032600	Enhancers	Gastric	stomach
45	chr8:59031800-59035600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:59032000-59033600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:59032000-59047200	Weak transcription	Liver	Liver
48	chr8:59032000-59049200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:59032200-59033600	Strong transcription	Brain Germinal Matrix	brain
50	chr8:59032200-59036000	Enhancers	Fetal Heart	heart

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