Variant report

Variant	esv3443742
Chromosome Location	chr5:28484695-28488493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570109376	chr5:28484696-28484697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185187001	chr5:28484727-28484728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4535464	chr5:28484791-28484792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568317422	chr5:28484798-28484799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552094547	chr5:28484821-28484822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4421119	chr5:28484858-28484859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557103124	chr5:28484888-28484889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189070485	chr5:28484899-28484900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181590451	chr5:28484953-28484954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185351231	chr5:28485041-28485042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547995763	chr5:28485048-28485049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577320812	chr5:28485079-28485080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55712512	chr5:28485147-28485148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571581514	chr5:28485188-28485189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113284561	chr5:28485203-28485204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190115445	chr5:28485293-28485294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180717815	chr5:28485294-28485295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186115192	chr5:28485325-28485326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530566022	chr5:28485338-28485339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192279909	chr5:28485346-28485347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184018868	chr5:28485397-28485398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563796985	chr5:28485447-28485448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35412569	chr5:28485459-28485460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186040861	chr5:28485484-28485485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537437303	chr5:28485486-28485487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140674293	chr5:28485497-28485498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190513849	chr5:28485498-28485499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375517118	chr5:28485517-28485518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143748649	chr5:28485572-28485573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550843789	chr5:28485712-28485713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201980320	chr5:28485713-28485714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10612214	chr5:28485724-28485725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367581098	chr5:28485734-28485735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4615310	chr5:28485739-28485740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs79130755	chr5:28485744-28485745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151084144	chr5:28485763-28485764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577382325	chr5:28485765-28485766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183118921	chr5:28485806-28485807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371457491	chr5:28485858-28485859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187003796	chr5:28485859-28485860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116223546	chr5:28485913-28485914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563591222	chr5:28485920-28485921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575441128	chr5:28485931-28485932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545961360	chr5:28485959-28485960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550201592	chr5:28485970-28485971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192780025	chr5:28485986-28485987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569991937	chr5:28485989-28485990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543408874	chr5:28486022-28486023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528175498	chr5:28486037-28486038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538646563	chr5:28486046-28486047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
Lung cancer	16740712	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
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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28484000-28486400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:28484200-28488800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:28485400-28487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:28486400-28486800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:28486600-28486800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:28486600-28487200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:28486800-28487000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:28486800-28487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:28487000-28487200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:28487000-28487800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:28487000-28487800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:28487200-28487400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:28487200-28488400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:28487200-28488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:28487400-28488600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:28487400-28489400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:28487600-28488000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:28487600-28488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:28487800-28488800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:28487800-28489800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:28488000-28489200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:28488400-28488800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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