Variant report

Variant	nsv965595
Chromosome Location	chr5:15208976-15219649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:15207572..15210660-chr5:15213009..15215817,3	K562	blood:
2	chr5:15217079..15219717-chr5:15220114..15222884,2	MCF-7	breast:
3	chr5:15208843..15210800-chr5:15211236..15213348,2	K562	blood:
4	chr5:15207572..15210660-chr5:15213009..15215817,3	K562	blood:
5	chr5:15208843..15210800-chr5:15211236..15213348,2	K562	blood:

Extended variants
information (count: 176 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs535917962	chr5:15209039-15209040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185429414	chr5:15209043-15209044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572915580	chr5:15209166-15209167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540220002	chr5:15209173-15209174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558922367	chr5:15209201-15209202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553398938	chr5:15209224-15209225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577185016	chr5:15209272-15209273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138570740	chr5:15209291-15209292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539691597	chr5:15209309-15209310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10070527	chr5:15209311-15209312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73750460	chr5:15209337-15209338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542802097	chr5:15209347-15209348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71595934	chr5:15209381-15209382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561029356	chr5:15209388-15209389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528494382	chr5:15209409-15209410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs36055748	chr5:15209412-15209413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546560174	chr5:15209464-15209465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141657621	chr5:15209499-15209500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79864844	chr5:15209508-15209509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574151206	chr5:15209511-15209512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551154815	chr5:15209589-15209590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569395350	chr5:15209735-15209736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536841411	chr5:15209739-15209740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548016603	chr5:15209767-15209768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73057965	chr5:15209774-15209775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375177340	chr5:15209801-15209802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149470087	chr5:15209870-15209871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189839922	chr5:15209913-15209914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181444067	chr5:15209919-15209920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537702501	chr5:15209983-15209984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186554060	chr5:15209997-15209998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114482854	chr5:15210064-15210065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144385677	chr5:15210071-15210072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10475039	chr5:15210091-15210092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191455957	chr5:15210115-15210116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540241113	chr5:15210143-15210144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2121181	chr5:15210301-15210302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532534068	chr5:15210308-15210309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115239221	chr5:15210317-15210318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182970121	chr5:15210350-15210351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563231749	chr5:15210351-15210352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186180358	chr5:15210352-15210353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544476388	chr5:15210378-15210379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530260578	chr5:15210406-15210407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548772204	chr5:15210422-15210423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191030525	chr5:15210423-15210424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182179311	chr5:15210426-15210427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35079160	chr5:15210431-15210432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73057970	chr5:15210444-15210445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73057972	chr5:15210455-15210456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
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
Multiple myeloma	17550852	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15209000-15209400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:15209200-15209600	Enhancers	A549	lung
3	chr5:15209200-15209800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr5:15209400-15209800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:15209400-15209800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:15209400-15209800	Enhancers	Fetal Heart	heart
7	chr5:15209800-15211200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:15211200-15211400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:15214800-15215400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:15214800-15215600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:15215000-15215200	Enhancers	Aorta	Aorta
12	chr5:15215200-15216800	Weak transcription	Aorta	Aorta
13	chr5:15216800-15217000	ZNF genes & repeats	Aorta	Aorta
14	chr5:15218600-15222000	Enhancers	Placenta	Placenta

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