Variant report

Variant	esv3479510
Chromosome Location	chr8:78125032-78126288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530129388	chr8:78125422-78125423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188311187	chr8:78125442-78125443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17380738	chr8:78125457-78125458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191154323	chr8:78125458-78125459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552564066	chr8:78125461-78125462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183043841	chr8:78125488-78125489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538571323	chr8:78125542-78125543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540913642	chr8:78125545-78125546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568719718	chr8:78125634-78125635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535537550	chr8:78125644-78125645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144697936	chr8:78125657-78125658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565495203	chr8:78125728-78125729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16939459	chr8:78125778-78125779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557734104	chr8:78125799-78125800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13281638	chr8:78125819-78125820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576271576	chr8:78125852-78125853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543342087	chr8:78125857-78125858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555131172	chr8:78125878-78125879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571170894	chr8:78125908-78125909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573509183	chr8:78125923-78125924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560878307	chr8:78125925-78125926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541873606	chr8:78125927-78125928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560657390	chr8:78125935-78125936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370931370	chr8:78125937-78125938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527649332	chr8:78125943-78125944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546161291	chr8:78126014-78126015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116469520	chr8:78126027-78126028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139883419	chr8:78126032-78126033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550537651	chr8:78126033-78126034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568631971	chr8:78126034-78126035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529516621	chr8:78126051-78126052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547149447	chr8:78126133-78126134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541704485	chr8:78126143-78126144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117148175	chr8:78126242-78126243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539193477	chr8:78126243-78126244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10112891	chr8:78126246-78126247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569351364	chr8:78126261-78126262	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	17016436	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD
Myelodysplastic syndrome	18508791	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78125400-78126400	Enhancers	Fetal Heart	heart

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