Variant report

Variant	esv3360583
Chromosome Location	chr8:50780826-50781654
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	chr8:50777318..50779724-chr8:50779730..50781959,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544936760	chr8:50780843-50780844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556827631	chr8:50780865-50780866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575149395	chr8:50780932-50780933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183163079	chr8:50780938-50780939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187937020	chr8:50780939-50780940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528213432	chr8:50780967-50780968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547113011	chr8:50780980-50780981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539929906	chr8:50781003-50781004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564931489	chr8:50781012-50781013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532138851	chr8:50781045-50781046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551346769	chr8:50781046-50781047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367705809	chr8:50781058-50781059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149410176	chr8:50781061-50781062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548777384	chr8:50781108-50781109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144761718	chr8:50781137-50781138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201852792	chr8:50781153-50781154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56012511	chr8:50781154-50781155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397700110	chr8:50781155-50781156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189676464	chr8:50781171-50781172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13251355	chr8:50781172-50781173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565258919	chr8:50781173-50781174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55920504	chr8:50781177-50781178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148588296	chr8:50781179-50781180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556099102	chr8:50781207-50781208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575185047	chr8:50781216-50781217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542487563	chr8:50781222-50781223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554779758	chr8:50781319-50781320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182880863	chr8:50781329-50781330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201414475	chr8:50781390-50781391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201136543	chr8:50781391-50781392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386725161	chr8:50781392-50781393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376894341	chr8:50781393-50781394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576962536	chr8:50781405-50781406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142031546	chr8:50781406-50781407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13255117	chr8:50781413-50781414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs58597929	chr8:50781437-50781438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs13254104	chr8:50781450-50781451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528365704	chr8:50781461-50781462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13261298	chr8:50781468-50781469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560771286	chr8:50781488-50781489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28529396	chr8:50781532-50781533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552685487	chr8:50781541-50781542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113468300	chr8:50781606-50781607	Weak transcription 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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50775200-50782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:50781400-50783400	Enhancers	Dnd41	blood

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