Variant report

Variant	nsv598251
Chromosome Location	chr5:58039641-58056208
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: 591 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs720084	chr5:58039641-58039642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7734741	chr5:58039681-58039682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6895906	chr5:58039686-58039687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562108314	chr5:58039762-58039763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570941766	chr5:58039766-58039767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139230040	chr5:58039784-58039785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577767749	chr5:58039794-58039795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544686499	chr5:58039797-58039798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529466015	chr5:58039883-58039884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539573684	chr5:58039899-58039900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547661277	chr5:58039943-58039944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549860183	chr5:58039967-58039968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7720815	chr5:58039977-58039978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs529461671	chr5:58040023-58040024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143232683	chr5:58040038-58040039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74799340	chr5:58040101-58040102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6876953	chr5:58040112-58040113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188397281	chr5:58040122-58040123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79656109	chr5:58040125-58040126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147476719	chr5:58040138-58040139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527671118	chr5:58040188-58040189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79462488	chr5:58040273-58040274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181877916	chr5:58040278-58040279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114549196	chr5:58040292-58040293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549959598	chr5:58040295-58040296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79411195	chr5:58040302-58040303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74791094	chr5:58040334-58040335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553561800	chr5:58040361-58040362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572041770	chr5:58040420-58040421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535838547	chr5:58040426-58040427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75980017	chr5:58040427-58040428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573949308	chr5:58040431-58040432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544495786	chr5:58040459-58040460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55645154	chr5:58040474-58040475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540326337	chr5:58040490-58040491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186564470	chr5:58040494-58040495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200493658	chr5:58040596-58040597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564289280	chr5:58040613-58040614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190618613	chr5:58040663-58040664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527710482	chr5:58040729-58040730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549352667	chr5:58040761-58040762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555462643	chr5:58040779-58040780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4296764	chr5:58040838-58040839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs531675442	chr5:58040881-58040882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139983262	chr5:58040887-58040888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376198586	chr5:58040893-58040894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149552041	chr5:58040899-58040900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113806235	chr5:58040914-58040915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148729940	chr5:58040922-58040923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553297914	chr5:58040934-58040935	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:218 , 50 per page) page: 1 2 3 4 5

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	chr5:58039000-58041400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:58039000-58041600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:58040600-58043000	Enhancers	Fetal Intestine Small	intestine
8	chr5:58040800-58043000	Enhancers	Fetal Intestine Large	intestine
9	chr5:58041400-58041600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:58041400-58042200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:58041400-58042400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:58041600-58042000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:58041600-58042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:58041800-58042400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:58042000-58042400	Enhancers	Brain Germinal Matrix	brain
16	chr5:58042000-58042400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:58042000-58042400	Enhancers	Ovary	ovary
18	chr5:58042000-58042600	Enhancers	Duodenum Mucosa	Duodenum
19	chr5:58042000-58042600	Enhancers	Fetal Lung	lung
20	chr5:58042200-58042400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:58042400-58043800	Weak transcription	Ovary	ovary
22	chr5:58042400-58047800	Weak transcription	Brain Germinal Matrix	brain
23	chr5:58042400-58054400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:58042600-58046200	Weak transcription	Fetal Lung	lung
25	chr5:58043000-58067800	Weak transcription	Fetal Intestine Small	intestine
26	chr5:58046000-58047800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:58046200-58050600	Enhancers	Fetal Lung	lung
28	chr5:58047000-58047400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:58047200-58047400	Enhancers	Adipose Nuclei	Adipose
30	chr5:58047200-58047400	Enhancers	Left Ventricle	heart
31	chr5:58047200-58048200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:58047200-58048400	Enhancers	Liver	Liver
33	chr5:58047200-58048600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:58047200-58048800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:58047400-58047800	Enhancers	HUVEC	blood vessel
36	chr5:58047400-58048400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:58047400-58048400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:58047800-58049000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:58047800-58049600	Enhancers	Brain Germinal Matrix	brain
40	chr5:58048000-58048200	Enhancers	Adipose Nuclei	Adipose
41	chr5:58048000-58055000	Weak transcription	Left Ventricle	heart
42	chr5:58048400-58049800	Weak transcription	Liver	Liver
43	chr5:58048600-58049400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:58049200-58049600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:58049400-58049600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:58049400-58049600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:58049400-58049600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:58049400-58049800	Enhancers	Ovary	ovary
49	chr5:58049600-58050000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:58049600-58050200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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