Variant report

Variant	esv2615769
Chromosome Location	chr8:49641614-49643057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572988005	chr8:49641624-49641625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140285265	chr8:49641639-49641640	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369276319	chr8:49641653-49641654	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79970043	chr8:49641654-49641655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72640529	chr8:49641655-49641656	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201999731	chr8:49641668-49641669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564884386	chr8:49641681-49641682	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149917781	chr8:49641685-49641686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532277971	chr8:49641692-49641693	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375175916	chr8:49641723-49641724	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376445901	chr8:49641736-49641737	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550122931	chr8:49641747-49641748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1482261	chr8:49641784-49641785	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs529770212	chr8:49641833-49641834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180953576	chr8:49641836-49641837	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185073461	chr8:49641854-49641855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534165559	chr8:49641897-49641898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552899469	chr8:49641920-49641921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191053057	chr8:49641922-49641923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538546921	chr8:49641955-49641956	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556561292	chr8:49641972-49641973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573029418	chr8:49641974-49641975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574908146	chr8:49642011-49642012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535921489	chr8:49642069-49642070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373514431	chr8:49642082-49642083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554015305	chr8:49642133-49642134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534001316	chr8:49642148-49642149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376226962	chr8:49642182-49642183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183278750	chr8:49642210-49642211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188591968	chr8:49642239-49642240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576693671	chr8:49642250-49642251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544123562	chr8:49642336-49642337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61733121	chr8:49642357-49642358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373864616	chr8:49642372-49642373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141971752	chr8:49642398-49642399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145734570	chr8:49642408-49642409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139372961	chr8:49642417-49642418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368962857	chr8:49642454-49642455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74669650	chr8:49642465-49642466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376353807	chr8:49642470-49642471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368429484	chr8:49642480-49642481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13276316	chr8:49642572-49642573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs146416868	chr8:49642580-49642581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368008110	chr8:49642586-49642587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555409802	chr8:49642653-49642654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550523280	chr8:49642667-49642668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568433272	chr8:49642690-49642691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191968047	chr8:49642707-49642708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139109950	chr8:49642728-49642729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572409628	chr8:49642732-49642733	Weak transcription	n/a	n/a	Overlapped CNVs	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:7 , 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	chr8:49639800-49647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:49640000-49642000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:49641200-49644800	Weak transcription	Fetal Lung	lung
7	chr8:49642000-49646800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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