Variant report

Variant	nsv537637
Chromosome Location	chr5:8690735-8730509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1203 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1203 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187684348	chr5:8690762-8690763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140502265	chr5:8690786-8690787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373888115	chr5:8690790-8690791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541759869	chr5:8690793-8690794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371406060	chr5:8693006-8693007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191423318	chr5:8693016-8693017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200020	chr5:8693018-8693019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs398050325	chr5:8693033-8693034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79829543	chr5:8693034-8693035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199564135	chr5:8693037-8693038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151337523	chr5:8693040-8693041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200019	chr5:8693045-8693046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77021840	chr5:8693050-8693051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200018	chr5:8693053-8693054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568497726	chr5:8693060-8693061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113164139	chr5:8693073-8693074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530914221	chr5:8693117-8693118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550675843	chr5:8693150-8693151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376158552	chr5:8693203-8693204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200017	chr5:8693248-8693249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539701692	chr5:8693275-8693276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34602764	chr5:8693284-8693285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2519880	chr5:8693346-8693347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2651645	chr5:8693349-8693350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368173170	chr5:8693371-8693372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148875303	chr5:8693374-8693375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182826392	chr5:8693440-8693441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575270189	chr5:8693442-8693443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200016	chr5:8693465-8693466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs557751055	chr5:8693497-8693498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370105293	chr5:8693553-8693554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577715742	chr5:8693568-8693569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200015	chr5:8693626-8693627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186750765	chr5:8693763-8693764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529720958	chr5:8693779-8693780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548189220	chr5:8693867-8693868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142889792	chr5:8693906-8693907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151057821	chr5:8693937-8693938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189976231	chr5:8693974-8693975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530878266	chr5:8693981-8693982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6897130	chr5:8694002-8694003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187964	chr5:8694018-8694019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs169239	chr5:8694101-8694102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546878311	chr5:8694141-8694142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566856323	chr5:8694166-8694167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115108357	chr5:8694167-8694168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183298751	chr5:8694176-8694177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367571548	chr5:8694196-8694197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569449282	chr5:8694216-8694217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537502178	chr5:8694252-8694253	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8689800-8690800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:8693000-8697600	Enhancers	Fetal Lung	lung
3	chr5:8695800-8696800	Enhancers	Fetal Muscle Leg	muscle
4	chr5:8695800-8696800	Enhancers	Fetal Stomach	stomach
5	chr5:8696800-8700400	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:8696800-8700800	Weak transcription	Fetal Stomach	stomach
7	chr5:8697600-8699600	Weak transcription	Fetal Lung	lung
8	chr5:8699600-8702200	Enhancers	Fetal Lung	lung
9	chr5:8700000-8701800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:8700400-8700600	Enhancers	NHLF	lung
11	chr5:8700400-8701600	Enhancers	Fetal Muscle Leg	muscle
12	chr5:8700400-8701600	Enhancers	Ovary	ovary
13	chr5:8700600-8701000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:8700600-8701000	Flanking Active TSS	NHLF	lung
15	chr5:8700800-8701800	Enhancers	Fetal Stomach	stomach
16	chr5:8701000-8701800	Enhancers	NHLF	lung
17	chr5:8702200-8710600	Weak transcription	Fetal Lung	lung
18	chr5:8710600-8711800	Enhancers	Fetal Lung	lung
19	chr5:8717600-8718000	Active TSS	Right Ventricle	heart
20	chr5:8721000-8722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:8722200-8727200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:8723400-8726400	Enhancers	Dnd41	blood
23	chr5:8725400-8730200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:8726400-8726600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:8726400-8726800	Flanking Active TSS	Dnd41	blood
26	chr5:8726600-8726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:8726600-8727200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:8726600-8728200	Enhancers	Fetal Stomach	stomach
29	chr5:8726800-8727000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:8726800-8727400	Enhancers	Dnd41	blood
31	chr5:8727000-8728000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:8727200-8727400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:8727200-8727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:8727400-8727800	Active TSS	Osteobl	bone
35	chr5:8727400-8728200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:8727400-8728400	Flanking Active TSS	Dnd41	blood
37	chr5:8727600-8727800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:8727600-8728000	Active TSS	NHDF-Ad	bronchial
39	chr5:8727800-8728000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:8727800-8728200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:8727800-8728200	Flanking Active TSS	Osteobl	bone
42	chr5:8727800-8728400	Enhancers	Fetal Lung	lung
43	chr5:8727800-8728800	Enhancers	NHLF	lung
44	chr5:8728000-8728800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:8728000-8728800	Enhancers	NHDF-Ad	bronchial
46	chr5:8728000-8729000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:8728200-8728800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:8728200-8730800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:8728200-8730800	Enhancers	Osteobl	bone
50	chr5:8728400-8729400	Enhancers	Dnd41	blood

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