Variant report

Variant	esv3441020
Chromosome Location	chr8:3811140-3811712
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	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145870385	chr8:3811173-3811174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534028102	chr8:3811182-3811183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147805810	chr8:3811183-3811184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371308100	chr8:3811193-3811194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185465272	chr8:3811207-3811208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77576054	chr8:3811235-3811236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563208813	chr8:3811240-3811241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575458622	chr8:3811242-3811243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13271061	chr8:3811244-3811245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114635275	chr8:3811252-3811253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369842878	chr8:3811255-3811256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560711667	chr8:3811262-3811263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2554509	chr8:3811284-3811285	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs546695280	chr8:3811286-3811287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550388546	chr8:3811302-3811303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564992342	chr8:3811321-3811322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376222715	chr8:3811337-3811338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78803280	chr8:3811369-3811370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78337700	chr8:3811376-3811377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142519299	chr8:3811383-3811384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548907728	chr8:3811394-3811395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114261680	chr8:3811400-3811401	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534228021	chr8:3811434-3811435	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190821737	chr8:3811459-3811460	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369865093	chr8:3811470-3811471	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143348649	chr8:3811471-3811472	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538406437	chr8:3811481-3811482	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551377776	chr8:3811493-3811494	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3116097	chr8:3811503-3811504	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73176298	chr8:3811507-3811508	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575436528	chr8:3811513-3811514	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148368795	chr8:3811554-3811555	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112081912	chr8:3811555-3811556	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561263790	chr8:3811578-3811579	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572720719	chr8:3811584-3811585	ZNF genes & repeats Enhancers	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
Pancreatic ductal adenocarcinoma	19077451	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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3810200-3811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:3811200-3811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:3811400-3811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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