Variant report

Variant	esv3380164
Chromosome Location	chr5:28945595-28949493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571909756	chr5:28945604-28945605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141213288	chr5:28945652-28945653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560626343	chr5:28945677-28945678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575765803	chr5:28945711-28945712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544390983	chr5:28945716-28945717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77869645	chr5:28945758-28945759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556893853	chr5:28945823-28945824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3050790	chr5:28945825-28945826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35372711	chr5:28945826-28945827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533576266	chr5:28945860-28945861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545338110	chr5:28945866-28945867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377071582	chr5:28945907-28945908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560857112	chr5:28945924-28945925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs314795	chr5:28945926-28945927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549428641	chr5:28945960-28945961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146949904	chr5:28945988-28945989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73747120	chr5:28946070-28946071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs578220688	chr5:28946131-28946132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531884242	chr5:28946136-28946137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573443923	chr5:28946179-28946180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571312058	chr5:28946185-28946186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542812499	chr5:28946197-28946198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553754575	chr5:28946252-28946253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539194960	chr5:28946293-28946294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137922484	chr5:28946315-28946316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535828913	chr5:28946324-28946325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs160608	chr5:28946329-28946330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571035937	chr5:28946347-28946348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540940824	chr5:28946359-28946360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112794564	chr5:28946405-28946406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190664946	chr5:28946417-28946418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578086597	chr5:28946418-28946419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545607724	chr5:28946461-28946462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560603326	chr5:28946469-28946470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528028595	chr5:28946496-28946497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543037486	chr5:28946501-28946502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs312659	chr5:28946519-28946520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531744145	chr5:28946528-28946529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549970813	chr5:28946572-28946573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181518678	chr5:28946608-28946609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75780830	chr5:28946688-28946689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550364924	chr5:28946723-28946724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184408681	chr5:28946733-28946734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570274557	chr5:28946773-28946774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565826603	chr5:28946787-28946788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386686658	chr5:28946788-28946789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs312657	chr5:28946796-28946797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569270122	chr5:28946890-28946891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536664839	chr5:28946931-28946932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372463813	chr5:28946933-28946934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Renal cell carcinoma	18194544	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28935000-28958800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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