Variant report

Variant	nsv968811
Chromosome Location	chr5:8326997-8327932
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	chr5:8326714..8328797-chr5:8452465..8455003,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146241828	chr5:8327013-8327014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138361209	chr5:8327017-8327018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535478427	chr5:8327027-8327028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115792632	chr5:8327053-8327054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141871081	chr5:8327091-8327092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537522143	chr5:8327092-8327093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7717975	chr5:8327096-8327097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150615930	chr5:8327103-8327104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539998446	chr5:8327136-8327137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76470325	chr5:8327164-8327165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570160066	chr5:8327174-8327175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369517321	chr5:8327203-8327204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561919710	chr5:8327218-8327219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113831594	chr5:8327228-8327229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559618142	chr5:8327300-8327301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78352549	chr5:8327303-8327304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529902322	chr5:8327326-8327327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564539480	chr5:8327336-8327337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533577146	chr5:8327398-8327399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547210063	chr5:8327446-8327447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567210465	chr5:8327465-8327466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377657455	chr5:8327473-8327474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548989532	chr5:8327500-8327501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185726963	chr5:8327505-8327506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149856222	chr5:8327507-8327508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537813351	chr5:8327549-8327550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569876111	chr5:8327563-8327564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190252576	chr5:8327564-8327565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577273053	chr5:8327568-8327569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533785389	chr5:8327584-8327585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147545471	chr5:8327635-8327636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76785197	chr5:8327666-8327667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542537914	chr5:8327670-8327671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180952136	chr5:8327701-8327702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140170509	chr5:8327779-8327780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10475424	chr5:8327822-8327823	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538795179	chr5:8327860-8327861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145608930	chr5:8327904-8327905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565801088	chr5:8327908-8327909	Enhancers Weak transcription	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8326800-8330200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:8327000-8327600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:8327000-8328200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:8327200-8327600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:8327200-8328200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:8327600-8328000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:8327800-8328000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:8327800-8328200	Enhancers	Primary hematopoietic stem cells	blood

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