Variant report

Variant	esv2829887
Chromosome Location	chr8:4475968-4484498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 385 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:385 , 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	rs35443110	chr8:4479807-4479808	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs561592883	chr8:4479810-4479811	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558695502	chr8:4479823-4479824	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538645986	chr8:4479832-4479833	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12335285	chr8:4479836-4479837	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs189865898	chr8:4479841-4479842	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556174400	chr8:4479842-4479843	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150558612	chr8:4479858-4479859	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542590315	chr8:4479860-4479861	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543971581	chr8:4479880-4479881	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182140135	chr8:4479882-4479883	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs62486710	chr8:4479890-4479891	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377105594	chr8:4479891-4479892	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187855039	chr8:4479894-4479895	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs138606891	chr8:4479895-4479896	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540287837	chr8:4479899-4479900	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142893052	chr8:4479909-4479910	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370450549	chr8:4479924-4479925	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373355095	chr8:4479930-4479931	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374107223	chr8:4479932-4479933	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs193121046	chr8:4479933-4479934	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73504902	chr8:4479939-4479940	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531294368	chr8:4479953-4479954	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs185549803	chr8:4479969-4479970	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs147442544	chr8:4479972-4479973	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527287687	chr8:4479976-4479977	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12335289	chr8:4479992-4479993	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139767811	chr8:4479995-4479996	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188408378	chr8:4480044-4480045	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549975606	chr8:4480083-4480084	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs193015973	chr8:4480097-4480098	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535328683	chr8:4480099-4480100	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553657260	chr8:4480114-4480115	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs117476813	chr8:4480123-4480124	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541122066	chr8:4480125-4480126	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533975273	chr8:4480148-4480149	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs61565678	chr8:4480154-4480155	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144996681	chr8:4480176-4480177	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76560430	chr8:4480190-4480191	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs544404062	chr8:4480199-4480200	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563066453	chr8:4480201-4480202	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143879474	chr8:4480259-4480260	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs542495362	chr8:4480266-4480267	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148633501	chr8:4480275-4480276	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs527270105	chr8:4480281-4480282	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552184351	chr8:4480288-4480289	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564003247	chr8:4480292-4480293	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs531407397	chr8:4480328-4480329	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184942619	chr8:4480342-4480343	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188621404	chr8:4480355-4480356	Weak transcription 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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4479800-4480000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:4479800-4480000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:4479800-4480000	Enhancers	Fetal Muscle Leg	muscle
4	chr8:4479800-4480200	Active TSS	Brain Angular Gyrus	brain
5	chr8:4479800-4480200	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:4479800-4480200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:4479800-4480200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:4479800-4480200	Active TSS	Brain Substantia Nigra	brain
9	chr8:4479800-4480400	Active TSS	Brain Hippocampus Middle	brain
10	chr8:4480000-4481800	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:4480000-4494400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:4481400-4494400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:4481800-4484200	Enhancers	Fetal Muscle Leg	muscle
14	chr8:4483600-4484200	Enhancers	Fetal Heart	heart
15	chr8:4483800-4484200	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:4483800-4484400	Enhancers	Fetal Lung	lung

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