Variant report

Variant	esv3328625
Chromosome Location	chr4:93500179-93502602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369509824	chr4:93500208-93500209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144418088	chr4:93500256-93500257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559338268	chr4:93500294-93500295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371612041	chr4:93500303-93500304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200166188	chr4:93500317-93500318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528416354	chr4:93500328-93500329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547971317	chr4:93500338-93500339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567943609	chr4:93500364-93500365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549147859	chr4:93500452-93500453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550227359	chr4:93500538-93500539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76917492	chr4:93500586-93500587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34822999	chr4:93500641-93500642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17019608	chr4:93500669-93500670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573451233	chr4:93500682-93500683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115929155	chr4:93500690-93500691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17320444	chr4:93500721-93500722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139777794	chr4:93500729-93500730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544832251	chr4:93500744-93500745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564381183	chr4:93500751-93500752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578051868	chr4:93500752-93500753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537308829	chr4:93500755-93500756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192904534	chr4:93500776-93500777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12505436	chr4:93500800-93500801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371049615	chr4:93500823-93500824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12513051	chr4:93500831-93500832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145278192	chr4:93500867-93500868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147620916	chr4:93500972-93500973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12513112	chr4:93500997-93500998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148107239	chr4:93501016-93501017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66800394	chr4:93501017-93501018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550755665	chr4:93501055-93501056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116238851	chr4:93501067-93501068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533092426	chr4:93501115-93501116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12505586	chr4:93501137-93501138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35739906	chr4:93501145-93501146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71912123	chr4:93501146-93501147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560899935	chr4:93501218-93501219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12505567	chr4:93501233-93501234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11733785	chr4:93501255-93501256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556059603	chr4:93501264-93501265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569577534	chr4:93501283-93501284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565191597	chr4:93501294-93501295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538393402	chr4:93501336-93501337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11730247	chr4:93501374-93501375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140485526	chr4:93501377-93501378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77515628	chr4:93501406-93501407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553857207	chr4:93501413-93501414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11730343	chr4:93501415-93501416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559591622	chr4:93501429-93501430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542621256	chr4:93501455-93501456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93495600-93511400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:93495600-93535600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:93496400-93540200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:93497800-93511200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:93497800-93524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:93498000-93521800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:93500600-93500800	Enhancers	Brain Angular Gyrus	brain
8	chr4:93500600-93500800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr4:93501000-93502600	Weak transcription	Brain Angular Gyrus	brain
10	chr4:93501200-93502600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:93501600-93501800	Enhancers	Brain Anterior Caudate	brain
12	chr4:93501800-93504200	Weak transcription	Brain Anterior Caudate	brain
13	chr4:93502400-93502600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:93502600-93502800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:93502600-93502800	Enhancers	Brain Angular Gyrus	brain
16	chr4:93502600-93503200	Enhancers	Brain Inferior Temporal Lobe	brain

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