Variant report

Variant	esv3481050
Chromosome Location	chr8:69183798-69189596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76211127	chr8:69183799-69183800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113065296	chr8:69183802-69183803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192960404	chr8:69183808-69183809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563740519	chr8:69183814-69183815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115187774	chr8:69183916-69183917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148779196	chr8:69184016-69184017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60860526	chr8:69184023-69184024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529519577	chr8:69184044-69184045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151331090	chr8:69184045-69184046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373044774	chr8:69184054-69184055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185575376	chr8:69184068-69184069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7843056	chr8:69184077-69184078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199947737	chr8:69184079-69184080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556494570	chr8:69184097-69184098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551755168	chr8:69184122-69184123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571680127	chr8:69184144-69184145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534253681	chr8:69184161-69184162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376224440	chr8:69184170-69184171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200791842	chr8:69184180-69184181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566531632	chr8:69184189-69184190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369778757	chr8:69184195-69184196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535677795	chr8:69184216-69184217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190447891	chr8:69184290-69184291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180700577	chr8:69184314-69184315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537757246	chr8:69184339-69184340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565898621	chr8:69184370-69184371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557295571	chr8:69184388-69184389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371238194	chr8:69184390-69184391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577239898	chr8:69184403-69184404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201780911	chr8:69184411-69184412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77319096	chr8:69184462-69184463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7812942	chr8:69184501-69184502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559851343	chr8:69184523-69184524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574144555	chr8:69184556-69184557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543254254	chr8:69184561-69184562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562946046	chr8:69184569-69184570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531993546	chr8:69184571-69184572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188332149	chr8:69184610-69184611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370898613	chr8:69184650-69184651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181157682	chr8:69184656-69184657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375243472	chr8:69184672-69184673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368018623	chr8:69184696-69184697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527719138	chr8:69184769-69184770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372202078	chr8:69184774-69184775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373682657	chr8:69184780-69184781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13278776	chr8:69184809-69184810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567793270	chr8:69184842-69184843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371348759	chr8:69184864-69184865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375277651	chr8:69184888-69184889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369906713	chr8:69184902-69184903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
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
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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69182000-69185600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:69183000-69184000	Enhancers	GM12878-XiMat	blood
3	chr8:69185600-69186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:69188200-69188600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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