Variant report

Variant	esv3369164
Chromosome Location	chr8:51278449-51280447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543997953	chr8:51278464-51278465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146084585	chr8:51278485-51278486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574011679	chr8:51278560-51278561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10100260	chr8:51278563-51278564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs16914776	chr8:51278604-51278605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532990353	chr8:51278614-51278615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551079941	chr8:51278732-51278733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367646487	chr8:51278756-51278757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372417321	chr8:51278802-51278803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74732451	chr8:51278832-51278833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530475039	chr8:51278843-51278844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549219544	chr8:51278855-51278856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190450701	chr8:51278891-51278892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528276140	chr8:51278899-51278900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546964766	chr8:51278902-51278903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2923062	chr8:51278916-51278917	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs539833138	chr8:51278929-51278930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557820017	chr8:51278941-51278942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570154930	chr8:51278958-51278959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140151688	chr8:51278959-51278960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559736103	chr8:51278964-51278965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369764267	chr8:51278989-51278990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181751135	chr8:51278995-51278996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61498509	chr8:51279025-51279026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541221656	chr8:51279039-51279040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553292673	chr8:51279042-51279043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578152890	chr8:51279076-51279077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12548399	chr8:51279163-51279164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377006764	chr8:51279207-51279208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530643001	chr8:51279267-51279268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542776116	chr8:51279303-51279304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71550229	chr8:51279459-51279460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369273644	chr8:51279518-51279519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558961884	chr8:51279519-51279520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187240886	chr8:51279520-51279521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537278923	chr8:51279558-51279559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192035961	chr8:51279589-51279590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546778840	chr8:51279621-51279622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373618503	chr8:51279641-51279642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184164363	chr8:51279671-51279672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116968863	chr8:51279699-51279700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533987251	chr8:51279722-51279723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542901488	chr8:51279724-51279725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569986241	chr8:51279737-51279738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537024318	chr8:51279782-51279783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555487402	chr8:51279796-51279797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567412596	chr8:51279817-51279818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534898255	chr8:51279828-51279829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553242134	chr8:51279930-51279931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79879872	chr8:51280000-51280001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Lung cancer	18438408	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51276600-51289000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:51276800-51278800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:51278800-51279000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
4	chr8:51279000-51283000	Weak transcription	Rectal Mucosa Donor 31	rectum

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