Variant report

Variant	esv3421446
Chromosome Location	chr4:93573579-93574727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149579461	chr4:93573596-93573597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539176173	chr4:93573708-93573709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558897005	chr4:93573751-93573752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371965508	chr4:93573769-93573770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572495724	chr4:93573778-93573779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144245132	chr4:93573797-93573798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369361394	chr4:93573809-93573810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574425992	chr4:93573849-93573850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554612674	chr4:93573896-93573897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566100339	chr4:93573935-93573936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554523405	chr4:93573955-93573956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186963615	chr4:93573957-93573958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190073182	chr4:93573973-93573974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182565545	chr4:93574000-93574001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572786306	chr4:93574036-93574037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112066502	chr4:93574040-93574041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576266940	chr4:93574072-93574073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186471337	chr4:93574073-93574074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112083823	chr4:93574074-93574075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376287023	chr4:93574081-93574082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564978431	chr4:93574166-93574167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527358989	chr4:93574167-93574168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191370331	chr4:93574172-93574173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563261400	chr4:93574182-93574183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529686664	chr4:93574187-93574188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113047148	chr4:93574189-93574190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570291537	chr4:93574220-93574221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183716833	chr4:93574254-93574255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62309199	chr4:93574345-93574346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566172270	chr4:93574348-93574349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189005137	chr4:93574354-93574355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193130293	chr4:93574370-93574371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185282103	chr4:93574376-93574377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537005487	chr4:93574395-93574396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557116571	chr4:93574400-93574401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189101860	chr4:93574413-93574414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79900280	chr4:93574437-93574438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79085070	chr4:93574446-93574447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145150152	chr4:93574455-93574456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201938967	chr4:93574456-93574457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545001452	chr4:93574472-93574473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62309200	chr4:93574473-93574474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373391447	chr4:93574474-93574475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200598475	chr4:93574475-93574476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201876755	chr4:93574477-93574478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201468039	chr4:93574478-93574479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112109018	chr4:93574479-93574480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191619336	chr4:93574480-93574481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544364746	chr4:93574497-93574498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562751782	chr4:93574507-93574508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93550000-93574800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93552000-93579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:93569400-93575200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:93571200-93577800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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