Variant report

Variant	esv3342137
Chromosome Location	chr4:152980602-152982700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200196426	chr4:152980610-152980611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs67935920	chr4:152980611-152980612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187986721	chr4:152980622-152980623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531148949	chr4:152980637-152980638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535854781	chr4:152980668-152980669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549008562	chr4:152980694-152980695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376803287	chr4:152980725-152980726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192023652	chr4:152980745-152980746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138190462	chr4:152980761-152980762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535152831	chr4:152980779-152980780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10025575	chr4:152980819-152980820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs565473679	chr4:152980824-152980825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539400221	chr4:152980828-152980829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10025820	chr4:152980864-152980865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149594363	chr4:152980879-152980880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536955817	chr4:152980927-152980928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553853162	chr4:152980970-152980971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372204995	chr4:152980974-152980975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555554966	chr4:152980975-152980976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573895110	chr4:152981001-152981002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572520153	chr4:152981012-152981013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559862250	chr4:152981013-152981014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184572231	chr4:152981046-152981047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113610596	chr4:152981076-152981077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115524299	chr4:152981151-152981152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71618393	chr4:152981153-152981154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186994235	chr4:152981226-152981227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17028519	chr4:152981284-152981285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561114656	chr4:152981316-152981317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528648994	chr4:152981341-152981342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546820836	chr4:152981403-152981404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565766048	chr4:152981404-152981405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200794398	chr4:152981413-152981414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539199668	chr4:152981417-152981418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35907851	chr4:152981432-152981433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13435686	chr4:152981484-152981485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551087210	chr4:152981508-152981509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569554372	chr4:152981526-152981527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6826235	chr4:152981563-152981564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537307256	chr4:152981596-152981597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60645530	chr4:152981646-152981647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10776525	chr4:152981674-152981675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146407769	chr4:152981726-152981727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139803082	chr4:152981760-152981761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537704728	chr4:152981789-152981790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192803667	chr4:152981799-152981800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76153510	chr4:152981854-152981855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143205337	chr4:152981864-152981865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34749754	chr4:152981907-152981908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6849887	chr4:152981913-152981914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152978800-152983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:152978800-152985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:152980800-152981200	Enhancers	Fetal Heart	heart
4	chr4:152980800-152981200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:152981200-152984800	Weak transcription	Fetal Heart	heart
6	chr4:152981200-152985400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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