Variant report

Variant	esv3436423
Chromosome Location	chr8:4627294-4628542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10503280	chr8:4627302-4627303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114161839	chr8:4627312-4627313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28602848	chr8:4627331-4627332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151195668	chr8:4627332-4627333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552294395	chr8:4627344-4627345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527906204	chr8:4627375-4627376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189854285	chr8:4627381-4627382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115283531	chr8:4627396-4627397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538587585	chr8:4627403-4627404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376989169	chr8:4627430-4627431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73661121	chr8:4627434-4627435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567973821	chr8:4627442-4627443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28634240	chr8:4627458-4627459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553600692	chr8:4627467-4627468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572139365	chr8:4627487-4627488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539123943	chr8:4627525-4627526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557575639	chr8:4627534-4627535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575821311	chr8:4627536-4627537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140358115	chr8:4627550-4627551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575331415	chr8:4627568-4627569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561968956	chr8:4627578-4627579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574765013	chr8:4627608-4627609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79007562	chr8:4627609-4627610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375209741	chr8:4627638-4627639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137875758	chr8:4627643-4627644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527817346	chr8:4627656-4627657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564724977	chr8:4627671-4627672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552702957	chr8:4627677-4627678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564711736	chr8:4627680-4627681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372494267	chr8:4627703-4627704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34866726	chr8:4627720-4627721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs200424664	chr8:4627733-4627734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368206692	chr8:4627747-4627748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372422017	chr8:4627749-4627750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7386146	chr8:4627780-4627781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535757931	chr8:4627804-4627805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34839121	chr8:4627806-4627807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565333314	chr8:4627810-4627811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539185874	chr8:4627834-4627835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537140025	chr8:4627850-4627851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544514438	chr8:4627855-4627856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376524840	chr8:4627880-4627881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13267381	chr8:4627888-4627889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57380680	chr8:4627901-4627902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145855742	chr8:4627915-4627916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13267648	chr8:4627924-4627925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370735285	chr8:4627929-4627930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555392722	chr8:4627931-4627932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114638102	chr8:4627945-4627946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540948180	chr8:4627956-4627957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4621000-4630800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:4625200-4630600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:4625200-4631400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:4628200-4629800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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