Variant report

Variant	esv2829897
Chromosome Location	chr8:51125957-51135544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4873428	chr8:51125957-51125958	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116992082	chr8:51125978-51125979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532133898	chr8:51126019-51126020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550753650	chr8:51126039-51126040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4873132	chr8:51126059-51126060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530019176	chr8:51126067-51126068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549093825	chr8:51126070-51126071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567691781	chr8:51126073-51126074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200448518	chr8:51126119-51126120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201725079	chr8:51126122-51126123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13278156	chr8:51126123-51126124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547158823	chr8:51126136-51126137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190523400	chr8:51126159-51126160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538811606	chr8:51126192-51126193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557543602	chr8:51126230-51126231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569431889	chr8:51126231-51126232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149569744	chr8:51126274-51126275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554261380	chr8:51126275-51126276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375107600	chr8:51126316-51126317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539851815	chr8:51126322-51126323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10957826	chr8:51126329-51126330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576550960	chr8:51126379-51126380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371546666	chr8:51126382-51126383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556227085	chr8:51126390-51126391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113606288	chr8:51126426-51126427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562737394	chr8:51126430-51126431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200282012	chr8:51126431-51126432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548198595	chr8:51126484-51126485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529925295	chr8:51126502-51126503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568073753	chr8:51126508-51126509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542156284	chr8:51126553-51126554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561260651	chr8:51126586-51126587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192683624	chr8:51126616-51126617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199861090	chr8:51126620-51126621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547022191	chr8:51126625-51126626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576097045	chr8:51126639-51126640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571733038	chr8:51126647-51126648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183791364	chr8:51126664-51126665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550871080	chr8:51126735-51126736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188391550	chr8:51126757-51126758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536535956	chr8:51126759-51126760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201237496	chr8:51126780-51126781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199505467	chr8:51126821-51126822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200544173	chr8:51126825-51126826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554801306	chr8:51126853-51126854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185555836	chr8:51126931-51126932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533514861	chr8:51127017-51127018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4873133	chr8:51127054-51127055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181253105	chr8:51127078-51127079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4873134	chr8:51127115-51127116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51124800-51126000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:51125000-51126000	Enhancers	Osteobl	bone
3	chr8:51125800-51127200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51127200-51127400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:51127400-51127600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:51134400-51135200	ZNF genes & repeats	Liver	Liver

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