Variant report

Variant	esv2760968
Chromosome Location	chr5:58038804-58040137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57946400..57947922-chr5:58037144..58039712,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs292948	chr5:58038804-58038805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556281598	chr5:58038817-58038818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577730539	chr5:58038869-58038870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544962997	chr5:58038900-58038901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564625531	chr5:58038963-58038964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528740414	chr5:58038991-58038992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573888664	chr5:58038993-58038994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35762639	chr5:58038996-58038997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540559532	chr5:58039018-58039019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142006136	chr5:58039022-58039023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560258168	chr5:58039023-58039024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7729997	chr5:58039138-58039139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550694870	chr5:58039192-58039193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79050437	chr5:58039220-58039221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568974164	chr5:58039227-58039228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376702969	chr5:58039249-58039250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533192655	chr5:58039260-58039261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551713330	chr5:58039321-58039322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146912480	chr5:58039344-58039345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553332969	chr5:58039388-58039389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186043354	chr5:58039405-58039406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368931418	chr5:58039407-58039408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545921106	chr5:58039429-58039430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564601405	chr5:58039594-58039595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555351782	chr5:58039639-58039640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs720084	chr5:58039641-58039642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7734741	chr5:58039681-58039682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6895906	chr5:58039686-58039687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562108314	chr5:58039762-58039763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570941766	chr5:58039766-58039767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139230040	chr5:58039784-58039785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577767749	chr5:58039794-58039795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544686499	chr5:58039797-58039798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529466015	chr5:58039883-58039884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539573684	chr5:58039899-58039900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547661277	chr5:58039943-58039944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549860183	chr5:58039967-58039968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7720815	chr5:58039977-58039978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs529461671	chr5:58040023-58040024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143232683	chr5:58040038-58040039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74799340	chr5:58040101-58040102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6876953	chr5:58040112-58040113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188397281	chr5:58040122-58040123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79656109	chr5:58040125-58040126	Weak transcription	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58027800-58049400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:58031800-58041400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:58036000-58040600	Weak transcription	Fetal Intestine Small	intestine
4	chr5:58036000-58040800	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58038000-58039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:58038000-58039000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:58038200-58039000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:58038200-58039000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:58039000-58041400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:58039000-58041600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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