Variant report

Variant	esv3501235
Chromosome Location	chr8:4316544-4320442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148289811	chr8:4316545-4316546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73660864	chr8:4316549-4316550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542796621	chr8:4316568-4316569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77906338	chr8:4316572-4316573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566987104	chr8:4316582-4316583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542287340	chr8:4316583-4316584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144311883	chr8:4316586-4316587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534257850	chr8:4316587-4316588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558996562	chr8:4316588-4316589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577271377	chr8:4316611-4316612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545328555	chr8:4316621-4316622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150839102	chr8:4316623-4316624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556974255	chr8:4316628-4316629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575426375	chr8:4316632-4316633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139311797	chr8:4316692-4316693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560712080	chr8:4316698-4316699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77307145	chr8:4316702-4316703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372879712	chr8:4316710-4316711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142551438	chr8:4316729-4316730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185256880	chr8:4316730-4316731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116322807	chr8:4316739-4316740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569427679	chr8:4316755-4316756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146015209	chr8:4316758-4316759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79403693	chr8:4316762-4316763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567024117	chr8:4316764-4316765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528012950	chr8:4316769-4316770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114986970	chr8:4316782-4316783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552696917	chr8:4316785-4316786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570907841	chr8:4316797-4316798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377123384	chr8:4316810-4316811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541724693	chr8:4316817-4316818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557260114	chr8:4316818-4316819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189527641	chr8:4316832-4316833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554343591	chr8:4316847-4316848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572658831	chr8:4316867-4316868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114234865	chr8:4316883-4316884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139961617	chr8:4316894-4316895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183919989	chr8:4316898-4316899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143520707	chr8:4316906-4316907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562476988	chr8:4316928-4316929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146761538	chr8:4316932-4316933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548860482	chr8:4316944-4316945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114759363	chr8:4316986-4316987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78883780	chr8:4316988-4316989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148389965	chr8:4316992-4316993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185860227	chr8:4318401-4318402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs59518789	chr8:4318414-4318415	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571860023	chr8:4318417-4318418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs7822007	chr8:4318423-4318424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs192430517	chr8:4318437-4318438	Active TSS	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4316400-4317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:4318400-4319000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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