Variant report

Variant	esv3357707
Chromosome Location	chr8:1122445-1126743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1123513..1126337-chr8:1142683..1145446,2	K562	blood:

Extended variants
information (count: 331 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4355800	chr8:1123403-1123404	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183109069	chr8:1123410-1123411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557305723	chr8:1123427-1123428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs186325414	chr8:1123429-1123430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs4541955	chr8:1123445-1123446	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139567876	chr8:1123474-1123475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560830686	chr8:1123489-1123490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574200088	chr8:1123505-1123506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543198071	chr8:1123506-1123507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562979665	chr8:1123513-1123514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531804466	chr8:1123527-1123528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11774974	chr8:1123532-1123533	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565163431	chr8:1123552-1123553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527667675	chr8:1123554-1123555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs182491512	chr8:1123581-1123582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62488986	chr8:1123588-1123589	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535292869	chr8:1123593-1123594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188056238	chr8:1123602-1123603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373748676	chr8:1123615-1123616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112856952	chr8:1123616-1123617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114214683	chr8:1123625-1123626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs4327880	chr8:1123630-1123631	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557418724	chr8:1123634-1123635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559853539	chr8:1123638-1123639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs527381709	chr8:1123654-1123655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs115517576	chr8:1123658-1123659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs554173341	chr8:1123659-1123660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs574235260	chr8:1123660-1123661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs6558417	chr8:1123662-1123663	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563042339	chr8:1123667-1123668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576688305	chr8:1123668-1123669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567134494	chr8:1123674-1123675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62488987	chr8:1123686-1123687	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565366964	chr8:1123688-1123689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182397826	chr8:1123698-1123699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550947074	chr8:1123699-1123700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547720550	chr8:1123707-1123708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369810490	chr8:1123710-1123711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187036243	chr8:1123711-1123712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372389428	chr8:1123712-1123713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569483830	chr8:1123723-1123724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548845805	chr8:1123725-1123726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs62488988	chr8:1123727-1123728	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116485224	chr8:1123729-1123730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551108825	chr8:1123732-1123733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191983419	chr8:1123740-1123741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs143614995	chr8:1123747-1123748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs146781030	chr8:1123762-1123763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555749274	chr8:1123769-1123770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573922301	chr8:1123771-1123772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1123400-1124400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:1123600-1124200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1124200-1129200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:1124400-1124800	ZNF genes & repeats	Fetal Kidney	kidney
5	chr8:1124800-1132400	Weak transcription	Fetal Kidney	kidney

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