Variant report

Variant	esv2763916
Chromosome Location	chr5:29077389-29078634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6450669	chr5:29077428-29077429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142154347	chr5:29077449-29077450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557924929	chr5:29077462-29077463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6450670	chr5:29077468-29077469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4340931	chr5:29077470-29077471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79563884	chr5:29077514-29077515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565921561	chr5:29077568-29077569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537178446	chr5:29077605-29077606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376131908	chr5:29077620-29077621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573335783	chr5:29077638-29077639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115601092	chr5:29077648-29077649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562287293	chr5:29077671-29077672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151187901	chr5:29077694-29077695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546087489	chr5:29077716-29077717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564653639	chr5:29077756-29077757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72741088	chr5:29077765-29077766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs824326	chr5:29077782-29077783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs824327	chr5:29077827-29077828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529336362	chr5:29077829-29077830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550990941	chr5:29077836-29077837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569415082	chr5:29077856-29077857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529400670	chr5:29077863-29077864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546187998	chr5:29077890-29077891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374890431	chr5:29077938-29077939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs824328	chr5:29077957-29077958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs566623861	chr5:29078000-29078001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533730890	chr5:29078012-29078013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190765792	chr5:29078020-29078021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539024729	chr5:29078047-29078048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34600673	chr5:29078048-29078049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567220198	chr5:29078065-29078066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs824329	chr5:29078099-29078100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374863355	chr5:29078109-29078110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80351370	chr5:29078115-29078116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181686743	chr5:29078134-29078135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62353941	chr5:29078173-29078174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140998321	chr5:29078191-29078192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542090672	chr5:29078208-29078209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371908809	chr5:29078260-29078261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573420311	chr5:29078276-29078277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186273100	chr5:29078277-29078278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562418629	chr5:29078295-29078296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76796166	chr5:29078315-29078316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569616495	chr5:29078321-29078322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544628127	chr5:29078380-29078381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562825528	chr5:29078384-29078385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533290033	chr5:29078385-29078386	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29077400-29078000	Enhancers	A549	lung
2	chr5:29077400-29078400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:29077400-29078400	Enhancers	Hela-S3	cervix
4	chr5:29077600-29078000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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