Variant report

Variant	nsv508346
Chromosome Location	chr5:8249498-8275350
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	chr5:8247174..8250138-chr5:8252454..8254787,2	K562	blood:
2	chr5:8247174..8250138-chr5:8252454..8254787,2	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146012539	chr5:8254225-8254226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575576288	chr5:8254251-8254252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538229248	chr5:8254292-8254293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569280833	chr5:8254307-8254308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536748222	chr5:8254311-8254312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73739505	chr5:8254364-8254365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180921321	chr5:8254390-8254391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139898670	chr5:8254403-8254404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574019871	chr5:8254409-8254410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542944110	chr5:8254421-8254422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563183668	chr5:8254422-8254423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531246782	chr5:8254477-8254478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185193397	chr5:8254488-8254489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191289596	chr5:8254551-8254552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527338592	chr5:8254595-8254596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7721147	chr5:8254598-8254599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142043553	chr5:8254618-8254619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372840369	chr5:8254620-8254621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181234136	chr5:8254697-8254698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534796931	chr5:8254706-8254707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186935924	chr5:8254723-8254724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553340848	chr5:8254770-8254771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73739506	chr5:8254771-8254772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191824472	chr5:8254801-8254802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571426524	chr5:8254828-8254829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113010632	chr5:8254863-8254864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374842178	chr5:8254958-8254959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367654629	chr5:8254960-8254961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150843851	chr5:8254975-8254976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373006217	chr5:8254979-8254980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182721469	chr5:8255021-8255022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74724449	chr5:8255037-8255038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376442362	chr5:8255086-8255087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542119651	chr5:8255100-8255101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561271242	chr5:8255116-8255117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556628779	chr5:8255142-8255143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576627091	chr5:8255157-8255158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544684781	chr5:8255192-8255193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35313887	chr5:8255194-8255195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190785393	chr5:8255251-8255252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368836643	chr5:8255252-8255253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576346917	chr5:8255272-8255273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139262491	chr5:8255291-8255292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149992768	chr5:8255303-8255304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145191829	chr5:8255313-8255314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12653137	chr5:8255344-8255345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376831981	chr5:8255345-8255346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569861895	chr5:8255393-8255394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369209072	chr5:8255462-8255463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372261081	chr5:8255466-8255467	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	chr5:8254200-8254800	Enhancers	Fetal Kidney	kidney
2	chr5:8254600-8255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:8255000-8255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:8255000-8258600	Weak transcription	Psoas Muscle	Psoas
5	chr5:8258800-8259400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:8258800-8259400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:8258800-8259600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:8258800-8259800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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