Variant report

Variant	esv3323191
Chromosome Location	chr8:49636899-49641497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140965499	chr8:49636939-49636940	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541698001	chr8:49636972-49636973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186004446	chr8:49636976-49636977	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548627747	chr8:49636997-49636998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571996967	chr8:49637051-49637052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545526740	chr8:49637053-49637054	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143133222	chr8:49637080-49637081	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531402466	chr8:49637092-49637093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549924795	chr8:49637096-49637097	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562246051	chr8:49637122-49637123	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545267638	chr8:49637130-49637131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148265225	chr8:49637172-49637173	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548063181	chr8:49637193-49637194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191363483	chr8:49637207-49637208	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141363341	chr8:49637220-49637221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150819970	chr8:49637286-49637287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372059761	chr8:49637292-49637293	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151203916	chr8:49637360-49637361	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138321979	chr8:49637377-49637378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34759586	chr8:49637397-49637398	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370065426	chr8:49637475-49637476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78608119	chr8:49637499-49637500	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555467173	chr8:49637565-49637566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77241808	chr8:49637599-49637600	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535330353	chr8:49637603-49637604	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554031022	chr8:49637672-49637673	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560742243	chr8:49637677-49637678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371175781	chr8:49637689-49637690	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143910849	chr8:49637690-49637691	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181262737	chr8:49637716-49637717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186181386	chr8:49637732-49637733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576134298	chr8:49637735-49637736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550728011	chr8:49637773-49637774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371727217	chr8:49637824-49637825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191031338	chr8:49637913-49637914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182103373	chr8:49637922-49637923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529510013	chr8:49637933-49637934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9657076	chr8:49637934-49637935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559908381	chr8:49637960-49637961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16938671	chr8:49638049-49638050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11785748	chr8:49638085-49638086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569691192	chr8:49638128-49638129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369202818	chr8:49638133-49638134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530847182	chr8:49638139-49638140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187902993	chr8:49638191-49638192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549056539	chr8:49638192-49638193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62508609	chr8:49638219-49638220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535119343	chr8:49638220-49638221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371966732	chr8:49638224-49638225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28478726	chr8:49638225-49638226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49627000-49647200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:49627800-49647400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:49633200-49647200	Weak transcription	Ovary	ovary
4	chr8:49633600-49638800	Weak transcription	Fetal Lung	lung
5	chr8:49633800-49637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:49636200-49637800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:49637800-49640000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:49638800-49639200	ZNF genes & repeats	Fetal Lung	lung
9	chr8:49639200-49640200	Weak transcription	Fetal Lung	lung
10	chr8:49639800-49647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:49640000-49642000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:49640200-49641200	Strong transcription	Fetal Lung	lung
13	chr8:49641200-49644800	Weak transcription	Fetal Lung	lung

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