Variant report

Variant	esv3443216
Chromosome Location	chr8:1574191-1574550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:1574369-1574425	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000253267	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113534811	chr8:1574191-1574192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545932765	chr8:1574192-1574193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559141955	chr8:1574194-1574195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186099035	chr8:1574201-1574202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113279010	chr8:1574211-1574212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541629732	chr8:1574215-1574216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113748845	chr8:1574221-1574222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200707295	chr8:1574223-1574224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576946102	chr8:1574225-1574226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72437860	chr8:1574226-1574227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77165849	chr8:1574238-1574239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113325352	chr8:1574246-1574247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186001492	chr8:1574248-1574249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111471186	chr8:1574255-1574256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550450209	chr8:1574256-1574257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35486019	chr8:1574264-1574265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569760782	chr8:1574277-1574278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79586184	chr8:1574288-1574289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532358026	chr8:1574301-1574302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111871130	chr8:1574302-1574303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77433980	chr8:1574320-1574321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552650562	chr8:1574333-1574334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74407716	chr8:1574344-1574345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113157528	chr8:1574347-1574348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146006736	chr8:1574349-1574350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113895637	chr8:1574358-1574359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77246865	chr8:1574359-1574360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113418322	chr8:1574376-1574377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs535242026	chr8:1574389-1574390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs188885946	chr8:1574405-1574406	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555232587	chr8:1574426-1574427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112740507	chr8:1574444-1574445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2469670	chr8:1574445-1574446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369030809	chr8:1574456-1574457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111749112	chr8:1574462-1574463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112067232	chr8:1574470-1574471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112278160	chr8:1574488-1574489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568656703	chr8:1574501-1574502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112157343	chr8:1574512-1574513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537784834	chr8:1574525-1574526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377014842	chr8:1574527-1574528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2469669	chr8:1574536-1574537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1570400-1579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:1571800-1574800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1573800-1574200	Enhancers	Colon Smooth Muscle	Colon
4	chr8:1574000-1574200	Enhancers	Fetal Muscle Leg	muscle

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