Variant report

Variant	esv3508382
Chromosome Location	chr8:50801268-50801456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139475090	chr8:50801304-50801305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367646046	chr8:50801312-50801313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201132849	chr8:50801313-50801314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202241166	chr8:50801314-50801315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371902359	chr8:50801316-50801317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28513168	chr8:50801317-50801318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200229932	chr8:50801318-50801319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9643674	chr8:50801322-50801323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202044443	chr8:50801327-50801328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28738753	chr8:50801328-50801329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71235766	chr8:50801348-50801349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546155948	chr8:50801350-50801351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78713391	chr8:50801360-50801361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373622466	chr8:50801362-50801363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386412711	chr8:50801363-50801364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78046725	chr8:50801364-50801365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71235767	chr8:50801365-50801366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76263548	chr8:50801368-50801369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9643675	chr8:50801373-50801374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201354952	chr8:50801375-50801376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77810892	chr8:50801376-50801377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370935819	chr8:50801377-50801378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57985339	chr8:50801383-50801384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376987641	chr8:50801386-50801387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202050410	chr8:50801401-50801402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202151013	chr8:50801404-50801405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200882966	chr8:50801405-50801406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201799003	chr8:50801406-50801407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62503966	chr8:50801439-50801440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114665627	chr8:50801442-50801443	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50801000-50802400	Enhancers	Liver	Liver

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