Variant report

Variant	esv2762715
Chromosome Location	chr8:3904034-3904730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3906471	chr8:3904034-3904035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374947489	chr8:3904037-3904038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543941280	chr8:3904040-3904041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147412284	chr8:3904048-3904049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529872713	chr8:3904073-3904074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547997459	chr8:3904086-3904087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2740898	chr8:3904088-3904089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185557875	chr8:3904114-3904115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80229201	chr8:3904122-3904123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75737456	chr8:3904126-3904127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569227054	chr8:3904130-3904131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375429792	chr8:3904132-3904133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200169147	chr8:3904134-3904135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558468851	chr8:3904145-3904146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570470441	chr8:3904146-3904147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370644077	chr8:3904154-3904155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150498113	chr8:3904162-3904163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573185948	chr8:3904169-3904170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79943222	chr8:3904178-3904179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3849817	chr8:3904188-3904189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs3849818	chr8:3904192-3904193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554407776	chr8:3904217-3904218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566334107	chr8:3904226-3904227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76915327	chr8:3904228-3904229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139463738	chr8:3904232-3904233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576410224	chr8:3904242-3904243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3860860	chr8:3904248-3904249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555407424	chr8:3904258-3904259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540454343	chr8:3904260-3904261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573818420	chr8:3904272-3904273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5002849	chr8:3904283-3904284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368643406	chr8:3904289-3904290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559927042	chr8:3904290-3904291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77495108	chr8:3904299-3904300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143238057	chr8:3904300-3904301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563907214	chr8:3904301-3904302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3849819	chr8:3904302-3904303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189562332	chr8:3904310-3904311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568113270	chr8:3904320-3904321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181537133	chr8:3904328-3904329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546265484	chr8:3904339-3904340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367685959	chr8:3904345-3904346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78856481	chr8:3904346-3904347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539721404	chr8:3904350-3904351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146691309	chr8:3904360-3904361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570269075	chr8:3904361-3904362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543818062	chr8:3904391-3904392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371706743	chr8:3904395-3904396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377169288	chr8:3904401-3904402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140304972	chr8:3904405-3904406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3889600-3904400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:3897400-3904200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:3902600-3904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:3904200-3904800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:3904200-3905000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:3904200-3905000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:3904400-3904800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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