Variant report

Variant	nsv611667
Chromosome Location	chr8:86517085-86528117
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	chr8:86525634..86527923-chr8:86533854..86535632,2	MCF-7	breast:

Extended variants
information (count: 174 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs117769196	chr8:86521810-86521811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535210637	chr8:86521825-86521826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73688531	chr8:86521841-86521842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554400077	chr8:86521846-86521847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575747123	chr8:86521874-86521875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534361047	chr8:86521880-86521881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554032977	chr8:86521882-86521883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577501740	chr8:86521967-86521968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543084956	chr8:86521989-86521990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562962491	chr8:86522038-86522039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576448376	chr8:86522055-86522056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189470172	chr8:86522072-86522073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562019097	chr8:86522081-86522082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112257741	chr8:86522082-86522083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527684791	chr8:86522094-86522095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547854324	chr8:86522121-86522122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564381682	chr8:86522122-86522123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533095135	chr8:86522141-86522142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549912083	chr8:86522169-86522170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180742988	chr8:86522171-86522172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548351386	chr8:86523645-86523646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59542630	chr8:86523742-86523743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79861909	chr8:86523773-86523774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182144131	chr8:86523793-86523794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551192104	chr8:86523838-86523839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571370296	chr8:86523853-86523854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376182576	chr8:86523883-86523884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550588917	chr8:86523903-86523904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143393310	chr8:86523924-86523925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146687023	chr8:86523998-86523999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372024079	chr8:86524041-86524042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555955059	chr8:86524102-86524103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375264748	chr8:86524127-86524128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76457006	chr8:86524131-86524132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535281528	chr8:86524161-86524162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111239797	chr8:86524189-86524190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67745000	chr8:86524190-86524191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs398047335	chr8:86524198-86524199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557959858	chr8:86524253-86524254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578073643	chr8:86524261-86524262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539973409	chr8:86524274-86524275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186732778	chr8:86524284-86524285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34899261	chr8:86524344-86524345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140277064	chr8:86524446-86524447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561700036	chr8:86524464-86524465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573565174	chr8:86524501-86524502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542524356	chr8:86524503-86524504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117150418	chr8:86524504-86524505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116697103	chr8:86524570-86524571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113119328	chr8:86524588-86524589	Enhancers 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
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
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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86521800-86522200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:86523600-86524600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:86523800-86524000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:86524000-86526000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:86524000-86528200	Enhancers	Adipose Nuclei	Adipose
6	chr8:86524600-86525400	Enhancers	Right Atrium	heart
7	chr8:86524600-86526000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:86525000-86525200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:86525400-86526600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:86526000-86526800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:86526000-86527200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:86526000-86527200	Enhancers	Liver	Liver
13	chr8:86526000-86527400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:86526000-86527800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:86526400-86527000	Enhancers	Brain Hippocampus Middle	brain
16	chr8:86526400-86527800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:86526400-86528000	Enhancers	Brain Anterior Caudate	brain
18	chr8:86526400-86528000	Enhancers	Brain Substantia Nigra	brain
19	chr8:86526600-86527200	Enhancers	HMEC	breast
20	chr8:86526600-86527400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:86526800-86527200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:86527000-86528400	Weak transcription	Brain Hippocampus Middle	brain

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