Variant report

Variant	esv3332407
Chromosome Location	chr8:50679299-50682297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76660448	chr8:50680400-50680401	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397785260	chr8:50680401-50680402	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543349269	chr8:50680410-50680411	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200466316	chr8:50680414-50680415	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111286464	chr8:50680524-50680525	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62501077	chr8:50680536-50680537	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112174997	chr8:50680544-50680545	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs59367053	chr8:50680554-50680555	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60970503	chr8:50680564-50680565	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56918614	chr8:50680568-50680569	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377061777	chr8:50680574-50680575	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369971741	chr8:50680575-50680576	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372194955	chr8:50680578-50680579	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57092617	chr8:50680581-50680582	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146472682	chr8:50680594-50680595	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57514970	chr8:50680595-50680596	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60249832	chr8:50680597-50680598	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56777543	chr8:50680604-50680605	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56340025	chr8:50680611-50680612	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55705505	chr8:50680618-50680619	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59397904	chr8:50680624-50680625	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386725154	chr8:50680632-50680633	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375604849	chr8:50680634-50680635	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57384105	chr8:50680636-50680637	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369684985	chr8:50680638-50680639	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386725155	chr8:50680640-50680641	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111161435	chr8:50680642-50680643	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376473170	chr8:50680646-50680647	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201447438	chr8:50680647-50680648	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386725156	chr8:50680650-50680651	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149602217	chr8:50680651-50680652	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375075801	chr8:50680653-50680654	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369106818	chr8:50680654-50680655	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139066960	chr8:50680655-50680656	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200187957	chr8:50680660-50680661	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371421445	chr8:50680663-50680664	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116981448	chr8:50680668-50680669	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117476843	chr8:50680670-50680671	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545365396	chr8:50680673-50680674	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367871505	chr8:50680682-50680683	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137890244	chr8:50680689-50680690	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147412547	chr8:50680691-50680692	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116514156	chr8:50680706-50680707	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115871775	chr8:50680710-50680711	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529989635	chr8:50680715-50680716	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55687594	chr8:50680716-50680717	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567220278	chr8:50680719-50680720	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111205552	chr8:50680726-50680727	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368202315	chr8:50680745-50680746	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528299899	chr8:50680751-50680752	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50680400-50680800	ZNF genes & repeats	Fetal Kidney	kidney
2	chr8:50680400-50681000	Enhancers	Ovary	ovary
3	chr8:50680800-50681400	ZNF genes & repeats	Esophagus	oesophagus

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