Variant report

Variant	esv3343242
Chromosome Location	chr5:30298795-30302593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112713582	chr5:30299045-30299046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6883071	chr5:30299046-30299047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4492127	chr5:30299100-30299101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535569264	chr5:30299145-30299146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547864795	chr5:30301807-30301808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114701866	chr5:30301823-30301824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531685851	chr5:30301828-30301829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372932343	chr5:30301832-30301833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551858770	chr5:30301861-30301862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530101955	chr5:30301882-30301883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527933591	chr5:30301972-30301973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548086681	chr5:30302028-30302029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10071127	chr5:30302035-30302036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536958817	chr5:30302058-30302059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113745078	chr5:30302077-30302078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184807377	chr5:30302104-30302105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568838443	chr5:30302121-30302122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537501970	chr5:30302122-30302123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557874377	chr5:30302160-30302161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577760441	chr5:30302169-30302170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189661288	chr5:30302201-30302202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11743556	chr5:30302202-30302203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553634854	chr5:30302217-30302218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573565279	chr5:30302221-30302222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139938870	chr5:30302259-30302260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576226014	chr5:30302284-30302285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562695008	chr5:30302311-30302312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116413102	chr5:30302369-30302370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545164080	chr5:30302382-30302383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545299270	chr5:30302385-30302386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565404926	chr5:30302397-30302398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141329056	chr5:30302412-30302413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150803895	chr5:30302419-30302420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539319855	chr5:30302440-30302441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374255417	chr5:30302466-30302467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530370294	chr5:30302509-30302510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181054385	chr5:30302571-30302572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:30299000-30299200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:30301800-30310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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