Variant report

Variant	nsv520721
Chromosome Location	chr5:58520735-58558388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:58532712..58534586-chr5:58538179..58539997,2	K562	blood:
2	chr5:58529142..58529735-chr6:26031124..26031817,2	Hela-S3	cervix:
3	chr5:58532712..58534586-chr5:58538179..58539997,2	K562	blood:

Extended variants
information (count: 1452 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1452 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2112956	chr5:58520735-58520736	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541206057	chr5:58520749-58520750	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137964651	chr5:58520821-58520822	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369219908	chr5:58520882-58520883	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187190691	chr5:58520902-58520903	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544112550	chr5:58520927-58520928	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563986641	chr5:58520943-58520944	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531178413	chr5:58520993-58520994	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149480024	chr5:58521129-58521130	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112226488	chr5:58521137-58521138	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564788762	chr5:58521138-58521139	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539773198	chr5:58521143-58521144	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559871817	chr5:58521192-58521193	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371405112	chr5:58521221-58521222	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527372797	chr5:58521281-58521282	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12656944	chr5:58521291-58521292	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192712608	chr5:58521319-58521320	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143967332	chr5:58521341-58521342	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549632722	chr5:58521425-58521426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552485488	chr5:58521493-58521494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs146934214	chr5:58521497-58521498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs58337838	chr5:58521498-58521499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs184523648	chr5:58521516-58521517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538611351	chr5:58521542-58521543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75556470	chr5:58521567-58521568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146674700	chr5:58521584-58521585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs59544865	chr5:58521600-58521601	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565985179	chr5:58521607-58521608	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535093933	chr5:58521616-58521617	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555132509	chr5:58521620-58521621	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs140217434	chr5:58521626-58521627	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575052530	chr5:58521631-58521632	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs6450513	chr5:58521643-58521644	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148611310	chr5:58521649-58521650	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539680483	chr5:58521677-58521678	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs376391207	chr5:58521686-58521687	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs59137692	chr5:58521735-58521736	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564895223	chr5:58521765-58521766	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs527317172	chr5:58521787-58521788	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115623915	chr5:58521796-58521797	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561584215	chr5:58521816-58521817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35585210	chr5:58521817-58521818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560667355	chr5:58521835-58521836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529814485	chr5:58521887-58521888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs190586062	chr5:58521924-58521925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs35939103	chr5:58521940-58521941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569788951	chr5:58521957-58521958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368095977	chr5:58522087-58522088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs153983	chr5:58522090-58522091	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555210170	chr5:58522100-58522101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58511800-58521600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:58512800-58532400	Weak transcription	Pancreas	Pancrea
3	chr5:58516000-58530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:58516200-58531000	Weak transcription	Psoas Muscle	Psoas
5	chr5:58518400-58527000	Weak transcription	Fetal Heart	heart
6	chr5:58519200-58523400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:58519200-58535000	Weak transcription	Left Ventricle	heart
8	chr5:58519400-58523600	Weak transcription	Fetal Kidney	kidney
9	chr5:58519400-58524000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:58519400-58529600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:58520400-58520800	Enhancers	Stomach Mucosa	stomach
12	chr5:58520400-58521400	Genic enhancers	Hela-S3	cervix
13	chr5:58520600-58520800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:58520600-58522800	ZNF genes & repeats	A549	lung
15	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:58521400-58532800	Weak transcription	Hela-S3	cervix
17	chr5:58521600-58521800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:58522800-58526000	Weak transcription	A549	lung
19	chr5:58523400-58526800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:58526000-58526800	Enhancers	A549	lung
21	chr5:58526800-58527400	Enhancers	Colon Smooth Muscle	Colon
22	chr5:58526800-58528000	Genic enhancers	A549	lung
23	chr5:58527000-58528400	Enhancers	Fetal Heart	heart
24	chr5:58527200-58527400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:58527200-58527400	Enhancers	Aorta	Aorta
26	chr5:58527200-58528000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:58527400-58530200	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
29	chr5:58528000-58529000	Enhancers	A549	lung
30	chr5:58528000-58529400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:58528400-58529600	Weak transcription	Fetal Heart	heart
32	chr5:58529000-58529600	Weak transcription	A549	lung
33	chr5:58529400-58529800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:58529400-58532000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:58529600-58529800	Enhancers	Right Atrium	heart
36	chr5:58529600-58530000	Enhancers	A549	lung
37	chr5:58529600-58530400	Enhancers	Fetal Lung	lung
38	chr5:58529600-58530600	Enhancers	Rectal Smooth Muscle	rectum
39	chr5:58529600-58531000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:58529600-58533400	Enhancers	Fetal Heart	heart
41	chr5:58529800-58531000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:58529800-58535000	Weak transcription	Right Atrium	heart
43	chr5:58530000-58530800	Weak transcription	A549	lung
44	chr5:58530200-58530400	Enhancers	Colon Smooth Muscle	Colon
45	chr5:58530400-58530800	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:58530600-58531000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr5:58530600-58531600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr5:58530800-58531400	Genic enhancers	A549	lung
49	chr5:58530800-58531600	Enhancers	Colon Smooth Muscle	Colon
50	chr5:58531000-58531200	Enhancers	Rectal Smooth Muscle	rectum

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