Variant report

Variant	nsv537746
Chromosome Location	chr5:45320236-45389649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 645 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572194310	chr5:45333807-45333808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541094410	chr5:45333818-45333819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564679103	chr5:45333845-45333846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146519048	chr5:45333850-45333851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55821517	chr5:45333860-45333861	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs77457644	chr5:45333862-45333863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529324330	chr5:45333865-45333866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184574669	chr5:45333900-45333901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540463376	chr5:45333939-45333940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62367529	chr5:45333950-45333951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551411915	chr5:45333997-45333998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143369280	chr5:45334032-45334033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78052972	chr5:45334054-45334055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188942258	chr5:45334089-45334090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569827747	chr5:45334110-45334111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148949928	chr5:45334117-45334118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377156907	chr5:45334124-45334125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75497555	chr5:45334155-45334156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572030877	chr5:45334158-45334159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541131070	chr5:45334191-45334192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151027799	chr5:45334207-45334208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578155398	chr5:45334237-45334238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543641324	chr5:45334272-45334273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564038870	chr5:45334287-45334288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181988680	chr5:45334324-45334325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551205472	chr5:45334365-45334366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79307850	chr5:45334381-45334382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368174240	chr5:45334393-45334394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528461883	chr5:45334409-45334410	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551500230	chr5:45334417-45334418	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546284776	chr5:45334434-45334435	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187278297	chr5:45334435-45334436	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189309092	chr5:45334500-45334501	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564828252	chr5:45334507-45334508	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549731481	chr5:45334510-45334511	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569799998	chr5:45334511-45334512	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142347344	chr5:45334521-45334522	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375146311	chr5:45334524-45334525	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146879416	chr5:45334538-45334539	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139345356	chr5:45334569-45334570	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534593422	chr5:45334581-45334582	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557872295	chr5:45334582-45334583	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539554842	chr5:45334598-45334599	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180856310	chr5:45334613-45334614	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557280019	chr5:45334638-45334639	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532264006	chr5:45334662-45334663	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186525622	chr5:45334666-45334667	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369210213	chr5:45334683-45334684	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532300820	chr5:45334712-45334713	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542958301	chr5:45334718-45334719	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45333800-45334400	Enhancers	Fetal Heart	heart
2	chr5:45334400-45335000	Flanking Active TSS	Fetal Heart	heart
3	chr5:45334400-45336800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr5:45334600-45337000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:45335000-45337000	Enhancers	Fetal Heart	heart
6	chr5:45344800-45345400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:45345600-45347200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr5:45345600-45347200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr5:45345800-45347000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr5:45345800-45347000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr5:45347000-45347400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:45353600-45354200	Enhancers	Fetal Brain Male	brain
13	chr5:45361400-45361600	Enhancers	Pancreas	Pancrea
14	chr5:45361600-45363400	Weak transcription	Pancreas	Pancrea
15	chr5:45363400-45363600	Enhancers	Pancreas	Pancrea
16	chr5:45376400-45377200	Enhancers	HUVEC	blood vessel
17	chr5:45376400-45380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:45380200-45380400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:45380400-45380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:45383000-45383200	Enhancers	Hela-S3	cervix
21	chr5:45383400-45385200	Weak transcription	Hela-S3	cervix
22	chr5:45384000-45385600	Enhancers	HUVEC	blood vessel
23	chr5:45384200-45385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:45384800-45385400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:45384800-45386600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:45385200-45385600	Enhancers	Adipose Nuclei	Adipose
27	chr5:45385200-45386200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:45385200-45386400	Enhancers	Hela-S3	cervix
29	chr5:45385400-45385800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:45385400-45386200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:45385600-45386000	Weak transcription	Adipose Nuclei	Adipose
32	chr5:45385600-45386400	Flanking Active TSS	HUVEC	blood vessel
33	chr5:45385800-45386200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:45385800-45386600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:45385800-45386600	Enhancers	NH-A	brain
36	chr5:45386000-45386600	Enhancers	Adipose Nuclei	Adipose
37	chr5:45386200-45386600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:45386200-45386800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:45386400-45386600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:45386400-45386600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:45386400-45387000	Enhancers	HUVEC	blood vessel

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