Variant report

Variant	nsv964768
Chromosome Location	chr5:43798587-43818512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 285 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185384525	chr5:43800039-43800040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371450288	chr5:43800054-43800055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138360429	chr5:43800108-43800109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529447927	chr5:43800122-43800123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148854851	chr5:43800130-43800131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566412152	chr5:43800147-43800148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189915487	chr5:43800149-43800150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62369493	chr5:43800173-43800174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373114777	chr5:43800177-43800178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374921580	chr5:43800203-43800204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369545770	chr5:43800207-43800208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570371774	chr5:43800253-43800254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539394226	chr5:43800286-43800287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9292894	chr5:43800313-43800314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569729245	chr5:43800314-43800315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192554400	chr5:43800319-43800320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113139422	chr5:43800322-43800323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10062920	chr5:43800333-43800334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs184592511	chr5:43800345-43800346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540950081	chr5:43800374-43800375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188199139	chr5:43800384-43800385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181007122	chr5:43800391-43800392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376505981	chr5:43800409-43800410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563614151	chr5:43800432-43800433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543364576	chr5:43800433-43800434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530821725	chr5:43800452-43800453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117413327	chr5:43800486-43800487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137925094	chr5:43800507-43800508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10078043	chr5:43800541-43800542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542842014	chr5:43800542-43800543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559675487	chr5:43800561-43800562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549426615	chr5:43800585-43800586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150826644	chr5:43801611-43801612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191473047	chr5:43801637-43801638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181936600	chr5:43801641-43801642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573280904	chr5:43801673-43801674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139234312	chr5:43801678-43801679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370743772	chr5:43801748-43801749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569258166	chr5:43801774-43801775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150014683	chr5:43801777-43801778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570247238	chr5:43801785-43801786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77711014	chr5:43801787-43801788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544933627	chr5:43801792-43801793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113352106	chr5:43801821-43801822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79293022	chr5:43801830-43801831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186300880	chr5:43801846-43801847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566892053	chr5:43801848-43801849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11441106	chr5:43801849-43801850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528898446	chr5:43801883-43801884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75703553	chr5:43801973-43801974	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Ovarian cancer	21720365	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
Breast cancer	21364760	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
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43800000-43800600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:43800200-43800600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:43801600-43802000	Enhancers	Osteobl	bone
4	chr5:43801600-43802600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:43801600-43802600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:43801600-43803200	Enhancers	HMEC	breast
7	chr5:43801600-43803400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:43801600-43803400	Enhancers	HSMMtube	muscle
9	chr5:43801600-43803600	Enhancers	HSMM	muscle
10	chr5:43801800-43802200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:43801800-43803200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:43802000-43802400	Enhancers	NHEK	skin
13	chr5:43802000-43802400	Weak transcription	Osteobl	bone
14	chr5:43802000-43803000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:43802000-43803200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:43802200-43802600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:43802200-43802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:43802400-43802800	Flanking Active TSS	NHEK	skin
19	chr5:43802400-43803200	Enhancers	Osteobl	bone
20	chr5:43802600-43803200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:43802600-43803200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:43802600-43803400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:43802600-43803400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:43802800-43803200	Enhancers	Fetal Lung	lung
25	chr5:43802800-43803200	Enhancers	NHEK	skin
26	chr5:43803200-43803600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:43803200-43804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:43803400-43803600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:43804800-43805200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:43814400-43815400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr5:43815600-43816400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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