Variant report

Variant	esv3402530
Chromosome Location	chr8:49277593-49279527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 85 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187615694	chr8:49277866-49277867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74303742	chr8:49277870-49277871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146578294	chr8:49277917-49277918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541284950	chr8:49277937-49277938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190809226	chr8:49277947-49277948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578195717	chr8:49277950-49277951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374632694	chr8:49277958-49277959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545340914	chr8:49277964-49277965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533391904	chr8:49277994-49277995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367783345	chr8:49278003-49278004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530857273	chr8:49278023-49278024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13271174	chr8:49278068-49278069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs62509277	chr8:49278088-49278089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536790060	chr8:49278090-49278091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375356049	chr8:49278157-49278158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547290806	chr8:49278176-49278177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565918159	chr8:49278193-49278194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371205975	chr8:49278221-49278222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183150103	chr8:49278262-49278263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551694281	chr8:49278264-49278265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569653866	chr8:49278385-49278386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374551485	chr8:49278399-49278400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187437066	chr8:49278430-49278431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56177409	chr8:49278436-49278437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190348152	chr8:49278582-49278583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573794052	chr8:49278608-49278609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74378578	chr8:49278716-49278717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555155308	chr8:49278784-49278785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548238346	chr8:49278792-49278793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571865229	chr8:49278881-49278882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553295521	chr8:49278905-49278906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578158510	chr8:49278917-49278918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78937893	chr8:49278929-49278930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545370825	chr8:49278975-49278976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183294741	chr8:49279004-49279005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146877544	chr8:49279006-49279007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542635358	chr8:49279104-49279105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35091066	chr8:49279129-49279130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551557135	chr8:49279135-49279136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528578872	chr8:49279147-49279148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540767611	chr8:49279162-49279163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577844948	chr8:49279245-49279246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559273049	chr8:49279354-49279355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533187086	chr8:49279403-49279404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149014165	chr8:49279411-49279412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7828724	chr8:49279436-49279437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375672074	chr8:49279479-49279480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148414971	chr8:49279480-49279481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530481371	chr8:49279498-49279499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369727846	chr8:49279514-49279515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49277800-49278200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr8:49278200-49282200	Weak transcription	Rectal Mucosa Donor 31	rectum

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