Variant report

Variant	esv2761432
Chromosome Location	chr8:63718878-63732350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 252 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34402019	chr8:63726059-63726060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530253723	chr8:63726070-63726071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs398008071	chr8:63726072-63726073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375250504	chr8:63726096-63726097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142630905	chr8:63726105-63726106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549605012	chr8:63726110-63726111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs150535139	chr8:63726159-63726160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185062860	chr8:63726166-63726167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556110267	chr8:63726195-63726196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571185115	chr8:63726196-63726197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs530589394	chr8:63726236-63726237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553419630	chr8:63726297-63726298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs1585871	chr8:63726313-63726314	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4554459	chr8:63726318-63726319	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532207951	chr8:63726330-63726331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554516549	chr8:63726379-63726380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201008889	chr8:63726408-63726409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190704149	chr8:63726483-63726484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543386416	chr8:63726487-63726488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562878496	chr8:63726498-63726499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533335989	chr8:63726530-63726531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552305742	chr8:63726531-63726532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192432220	chr8:63726534-63726535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560528527	chr8:63726538-63726539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs6472051	chr8:63726574-63726575	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140443158	chr8:63726576-63726577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs567800013	chr8:63726659-63726660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537745281	chr8:63726661-63726662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532011927	chr8:63726701-63726702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550181896	chr8:63726703-63726704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs183726489	chr8:63726725-63726726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs144159279	chr8:63726726-63726727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553356180	chr8:63726734-63726735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs57834913	chr8:63726772-63726773	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77260974	chr8:63726799-63726800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs9650208	chr8:63726808-63726809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554732430	chr8:63726833-63726834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188151934	chr8:63726855-63726856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543624672	chr8:63726869-63726870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142964421	chr8:63726875-63726876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71501602	chr8:63726917-63726918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2883012	chr8:63726918-63726919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545372396	chr8:63726935-63726936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2352718	chr8:63726961-63726962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527775860	chr8:63726979-63726980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576832337	chr8:63727010-63727011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376580348	chr8:63727011-63727012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62509400	chr8:63727023-63727024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561457269	chr8:63727027-63727028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531779515	chr8:63727043-63727044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63726000-63726800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
2	chr8:63726800-63731400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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