Variant report

Variant	esv32802
Chromosome Location	chr8:86495686-86501615
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	chr8:86494376..86498242-chr8:86499635..86502661,3	MCF-7	breast:
2	chr8:86494376..86498242-chr8:86499635..86502661,3	MCF-7	breast:

Extended variants
information (count: 198 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs149289620	chr8:86495692-86495693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561335476	chr8:86495738-86495739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71525006	chr8:86495740-86495741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112517213	chr8:86495772-86495773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560982460	chr8:86495871-86495872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529919623	chr8:86495882-86495883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139699868	chr8:86495892-86495893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566294556	chr8:86495919-86495920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111339506	chr8:86496091-86496092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536640072	chr8:86496103-86496104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568929243	chr8:86496115-86496116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537583113	chr8:86496139-86496140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554587905	chr8:86496145-86496146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555008369	chr8:86496149-86496150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200239231	chr8:86496150-86496151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183156015	chr8:86496177-86496178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536917811	chr8:86496198-86496199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553713194	chr8:86496205-86496206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530564002	chr8:86496225-86496226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201601462	chr8:86496242-86496243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573310711	chr8:86496251-86496252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550379890	chr8:86496252-86496253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186036492	chr8:86496268-86496269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371668077	chr8:86496325-86496326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537282370	chr8:86496417-86496418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375328879	chr8:86496482-86496483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386727404	chr8:86496497-86496498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575678998	chr8:86496500-86496501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115405542	chr8:86496505-86496506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190461398	chr8:86496540-86496541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574511090	chr8:86496698-86496699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182555601	chr8:86496704-86496705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187792526	chr8:86496750-86496751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192756191	chr8:86496774-86496775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147178505	chr8:86496776-86496777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182714184	chr8:86496784-86496785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs447131	chr8:86496906-86496907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35482282	chr8:86496967-86496968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140248437	chr8:86497006-86497007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568020192	chr8:86497022-86497023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187783871	chr8:86497026-86497027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547464026	chr8:86497139-86497140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567145712	chr8:86497156-86497157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576996406	chr8:86497206-86497207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539000144	chr8:86497232-86497233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559088081	chr8:86497238-86497239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192689118	chr8:86497283-86497284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537917819	chr8:86497407-86497408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113619970	chr8:86497415-86497416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554650093	chr8:86497566-86497567	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86494400-86496400	Weak transcription	Brain Substantia Nigra	brain
2	chr8:86494800-86498600	Weak transcription	Liver	Liver
3	chr8:86495000-86495800	Enhancers	Placenta	Placenta
4	chr8:86495000-86500200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:86498600-86498800	Enhancers	Liver	Liver
6	chr8:86498800-86499200	Flanking Active TSS	Liver	Liver
7	chr8:86500200-86500800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:86500800-86504400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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