Variant report

Variant	esv1817480
Chromosome Location	chr8:52643151-52654831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52639137..52641125-chr8:52641198..52643184,2	K562	blood:
2	chr8:52652822..52654740-chr8:52669387..52671490,2	MCF-7	breast:

Extended variants
information (count: 442 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12676244	chr8:52643151-52643152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543040191	chr8:52643213-52643214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185293532	chr8:52643226-52643227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143156064	chr8:52643250-52643251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561309852	chr8:52643267-52643268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542056955	chr8:52643313-52643314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115581694	chr8:52643387-52643388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530258993	chr8:52643431-52643432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527900255	chr8:52643479-52643480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552870552	chr8:52643525-52643526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571184390	chr8:52643579-52643580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531717410	chr8:52643605-52643606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550187240	chr8:52643608-52643609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11995781	chr8:52643614-52643615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568457437	chr8:52643636-52643637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114536574	chr8:52643649-52643650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372569394	chr8:52643651-52643652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374606638	chr8:52643657-52643658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148246818	chr8:52643697-52643698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141234840	chr8:52643711-52643712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539267687	chr8:52643717-52643718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377720506	chr8:52643732-52643733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188939011	chr8:52643758-52643759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575963885	chr8:52643784-52643785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182168447	chr8:52643836-52643837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114883912	chr8:52643868-52643869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554859026	chr8:52643914-52643915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374867470	chr8:52643952-52643953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186707305	chr8:52644003-52644004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150379636	chr8:52644008-52644009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192434642	chr8:52644018-52644019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546448228	chr8:52644029-52644030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57170351	chr8:52644093-52644094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183781652	chr8:52644096-52644097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532330320	chr8:52644101-52644102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185397345	chr8:52644103-52644104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576212208	chr8:52644126-52644127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61265509	chr8:52644152-52644153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370818815	chr8:52644155-52644156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529286539	chr8:52644168-52644169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59676626	chr8:52644174-52644175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189713258	chr8:52644201-52644202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571488603	chr8:52644202-52644203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539230911	chr8:52644208-52644209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77928096	chr8:52644216-52644217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569613315	chr8:52644231-52644232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536902920	chr8:52644235-52644236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555386419	chr8:52644309-52644310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61183498	chr8:52644310-52644311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138178565	chr8:52644335-52644336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52637400-52650400	Weak transcription	Left Ventricle	heart
2	chr8:52640800-52644200	Weak transcription	Fetal Lung	lung
3	chr8:52644000-52665400	Weak transcription	Right Ventricle	heart
4	chr8:52644200-52645200	Enhancers	Fetal Lung	lung
5	chr8:52645200-52645400	Weak transcription	Fetal Lung	lung
6	chr8:52645400-52645800	Enhancers	Fetal Lung	lung
7	chr8:52645800-52646600	Weak transcription	Fetal Lung	lung
8	chr8:52646600-52647800	Enhancers	Fetal Lung	lung
9	chr8:52647000-52647600	Enhancers	Fetal Kidney	kidney
10	chr8:52650400-52651000	Enhancers	Left Ventricle	heart

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