Variant report

Variant	esv3332176
Chromosome Location	chr8:46905587-46909885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 459 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554248843	chr8:46905589-46905590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551018869	chr8:46905590-46905591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180748960	chr8:46905613-46905614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116295851	chr8:46905617-46905618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373998911	chr8:46905630-46905631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543170079	chr8:46905638-46905639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78442658	chr8:46905646-46905647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563333747	chr8:46905647-46905648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564652047	chr8:46905648-46905649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76421793	chr8:46905653-46905654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545615752	chr8:46905662-46905663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75615947	chr8:46905678-46905679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80268448	chr8:46905689-46905690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186545794	chr8:46905694-46905695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199618475	chr8:46905700-46905701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112017624	chr8:46905701-46905702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565618280	chr8:46905707-46905708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112101650	chr8:46905728-46905729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530395373	chr8:46905731-46905732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371357115	chr8:46905755-46905756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191005170	chr8:46905759-46905760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182567387	chr8:46905789-46905790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187268023	chr8:46905791-46905792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547797675	chr8:46905799-46905800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561147150	chr8:46905801-46905802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550141472	chr8:46905802-46905803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112400290	chr8:46905812-46905813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550015769	chr8:46905823-46905824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569766313	chr8:46905824-46905825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62501868	chr8:46905829-46905830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367740643	chr8:46905830-46905831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538491638	chr8:46905833-46905834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62501869	chr8:46905842-46905843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113965425	chr8:46905856-46905857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111751021	chr8:46905859-46905860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62501870	chr8:46905860-46905861	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201723606	chr8:46905868-46905869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111565361	chr8:46905874-46905875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201244250	chr8:46905883-46905884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565670161	chr8:46905887-46905888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111952028	chr8:46905893-46905894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs66616667	chr8:46905900-46905901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74199285	chr8:46905905-46905906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71237350	chr8:46905909-46905910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111871452	chr8:46905919-46905920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182353380	chr8:46905932-46905933	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375111147	chr8:46905944-46905945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78780724	chr8:46905959-46905960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74473318	chr8:46905969-46905970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534636225	chr8:46905975-46905976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Oral cancer	21386901	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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	21251322	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46896800-46911200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr8:46901400-46908200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr8:46901800-46911400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:46902400-46908200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr8:46903400-46906600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:46903400-46907600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:46903600-46907600	Weak transcription	HUVEC	blood vessel
8	chr8:46906400-46906800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr8:46906600-46906800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:46906800-46907000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:46907600-46907800	ZNF genes & repeats	HUVEC	blood vessel
12	chr8:46907600-46908200	ZNF genes & repeats	Fetal Brain Male	brain

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