Variant report

Variant	esv33551
Chromosome Location	chr8:5826511-5831306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 388 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2816430	chr8:5826511-5826512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574845150	chr8:5826512-5826513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542300061	chr8:5826519-5826520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560331643	chr8:5826521-5826522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527662090	chr8:5826527-5826528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17075441	chr8:5826531-5826532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564386095	chr8:5826603-5826604	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146897493	chr8:5826614-5826615	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182335173	chr8:5826647-5826648	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148307752	chr8:5826648-5826649	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76202502	chr8:5826650-5826651	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10087330	chr8:5826652-5826653	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2816431	chr8:5826655-5826656	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141409420	chr8:5826671-5826672	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534350317	chr8:5826678-5826679	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2840503	chr8:5826686-5826687	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2840504	chr8:5826703-5826704	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538107516	chr8:5826715-5826716	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150863354	chr8:5826724-5826725	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138218808	chr8:5826734-5826735	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149578237	chr8:5826751-5826752	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560616557	chr8:5826753-5826754	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568054982	chr8:5826780-5826781	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560906288	chr8:5826787-5826788	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2700795	chr8:5826817-5826818	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549828363	chr8:5826855-5826856	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370920851	chr8:5826884-5826885	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111855268	chr8:5826892-5826893	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563776256	chr8:5826906-5826907	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139903856	chr8:5826916-5826917	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531680017	chr8:5826919-5826920	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532557235	chr8:5826924-5826925	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141881077	chr8:5826926-5826927	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187127999	chr8:5826932-5826933	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375028550	chr8:5826933-5826934	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529069919	chr8:5826955-5826956	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547241883	chr8:5826969-5826970	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9314586	chr8:5826979-5826980	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532818004	chr8:5826995-5826996	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550970001	chr8:5826996-5826997	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569299385	chr8:5827004-5827005	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76844278	chr8:5827008-5827009	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191941309	chr8:5827013-5827014	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568593077	chr8:5827019-5827020	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201884619	chr8:5827023-5827024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs534951372	chr8:5827039-5827040	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs9314587	chr8:5827045-5827046	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34930197	chr8:5827077-5827078	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572573744	chr8:5827081-5827082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs546311324	chr8:5827093-5827094	Enhancers Flanking Active TSS	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
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
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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5821800-5827000	Weak transcription	Fetal Lung	lung
2	chr8:5822200-5826600	Weak transcription	Fetal Heart	heart
3	chr8:5826600-5827400	Flanking Active TSS	Fetal Heart	heart
4	chr8:5827000-5827400	Enhancers	Fetal Lung	lung
5	chr8:5827000-5828200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:5827200-5828000	Enhancers	Fetal Muscle Leg	muscle
7	chr8:5827400-5828600	Enhancers	Fetal Heart	heart
8	chr8:5827600-5827800	Enhancers	Fetal Stomach	stomach
9	chr8:5828000-5828200	Enhancers	Liver	Liver
10	chr8:5828600-5830400	Weak transcription	Fetal Heart	heart
11	chr8:5830400-5831200	Enhancers	Fetal Heart	heart

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