Variant report

Variant	esv2588706
Chromosome Location	chr5:57922470-57924029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 96 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553529402	chr5:57922471-57922472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6450488	chr5:57922491-57922492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542416922	chr5:57922606-57922607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146765002	chr5:57922620-57922621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374873791	chr5:57922641-57922642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190153097	chr5:57922653-57922654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545770420	chr5:57922683-57922684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182054300	chr5:57922739-57922740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528357317	chr5:57922748-57922749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550779669	chr5:57922760-57922761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546535206	chr5:57922774-57922775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569376064	chr5:57922825-57922826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148872950	chr5:57922842-57922843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529046156	chr5:57922880-57922881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550776068	chr5:57923025-57923026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530286208	chr5:57923062-57923063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74736934	chr5:57923099-57923100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568839251	chr5:57923143-57923144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557291106	chr5:57923180-57923181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs66646118	chr5:57923181-57923182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539579526	chr5:57923182-57923183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551387669	chr5:57923248-57923249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58104232	chr5:57923319-57923320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113114929	chr5:57923342-57923343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200838858	chr5:57923343-57923344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566520237	chr5:57923376-57923377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533774200	chr5:57923468-57923469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548512877	chr5:57923504-57923505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142624947	chr5:57923551-57923552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16888314	chr5:57923583-57923584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75678661	chr5:57923584-57923585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186732461	chr5:57923585-57923586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150950311	chr5:57923651-57923652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193035461	chr5:57923677-57923678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140779871	chr5:57923722-57923723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369983914	chr5:57923778-57923779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372777070	chr5:57923780-57923781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376365937	chr5:57923781-57923782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368991792	chr5:57923788-57923789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564135045	chr5:57923800-57923801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376451551	chr5:57923811-57923812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185630702	chr5:57923846-57923847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540240709	chr5:57923870-57923871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145728435	chr5:57923933-57923934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529218045	chr5:57923953-57923954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147769453	chr5:57923963-57923964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564641065	chr5:57923984-57923985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58277302	chr5:57924003-57924004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549077897	chr5:57924004-57924005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562747223	chr5:57924022-57924023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57918400-57924400	Weak transcription	Small Intestine	intestine
2	chr5:57919200-57924200	Weak transcription	Stomach Mucosa	stomach
3	chr5:57919600-57924200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:57919800-57924400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:57919800-57924400	Weak transcription	Fetal Lung	lung
6	chr5:57919800-57925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:57920200-57924400	Weak transcription	Fetal Stomach	stomach
8	chr5:57920200-57924400	Weak transcription	Right Atrium	heart
9	chr5:57921000-57933000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:57922800-57923000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr5:57923200-57924200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:57924000-57925400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:57924000-57925400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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