Variant report

Variant	esv3390889
Chromosome Location	chr8:69264948-69266946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568043393	chr8:69264994-69264995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537171258	chr8:69265002-69265003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61263542	chr8:69265080-69265081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377280903	chr8:69265132-69265133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367695863	chr8:69265151-69265152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183482605	chr8:69265155-69265156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539993469	chr8:69265165-69265166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577461061	chr8:69265195-69265196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374137032	chr8:69265199-69265200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117267040	chr8:69265243-69265244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553713434	chr8:69265261-69265262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544856616	chr8:69265268-69265269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573500004	chr8:69265323-69265324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542508602	chr8:69265335-69265336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79660744	chr8:69265339-69265340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75534872	chr8:69265341-69265342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544317859	chr8:69265361-69265362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118133362	chr8:69265376-69265377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532176663	chr8:69265520-69265521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191949927	chr8:69265530-69265531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547955547	chr8:69265561-69265562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369530590	chr8:69265646-69265647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7823116	chr8:69265651-69265652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528420992	chr8:69265743-69265744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563053242	chr8:69265801-69265802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150876680	chr8:69265813-69265814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200912607	chr8:69265814-69265815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567998264	chr8:69265844-69265845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7823422	chr8:69265858-69265859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200261409	chr8:69265861-69265862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35184810	chr8:69265872-69265873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60740294	chr8:69265873-69265874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143195835	chr8:69265874-69265875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149629383	chr8:69265961-69265962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542710671	chr8:69265991-69265992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573112166	chr8:69266012-69266013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs814442	chr8:69266098-69266099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534663827	chr8:69266146-69266147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539530846	chr8:69266193-69266194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553338524	chr8:69266196-69266197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553341292	chr8:69266205-69266206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186723831	chr8:69266209-69266210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537962660	chr8:69266222-69266223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377615136	chr8:69266233-69266234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144403810	chr8:69266245-69266246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574803881	chr8:69266299-69266300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544150150	chr8:69266315-69266316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189949180	chr8:69266316-69266317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560877115	chr8:69266348-69266349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577753965	chr8:69266359-69266360	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69264000-69265200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:69265200-69267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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