Variant report

Variant	nsv900365
Chromosome Location	chr13:65385600-65492716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65452228..65453752-chr13:65456863..65459026,2	MCF-7	breast:
2	chr13:65490694..65491214-chr8:101576105..101576870,2	K562	blood:
3	chr13:65452228..65453752-chr13:65456863..65459026,2	MCF-7	breast:

Extended variants
information (count: 956 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:956 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9571282	chr13:65385600-65385601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17434465	chr13:65385634-65385635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149251919	chr13:65385642-65385643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577971808	chr13:65385690-65385691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183323388	chr13:65385694-65385695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143456186	chr13:65385726-65385727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187866444	chr13:65385762-65385763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542801207	chr13:65385790-65385791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571538606	chr13:65385850-65385851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147971369	chr13:65385860-65385861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573457127	chr13:65385864-65385865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545396005	chr13:65385887-65385888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565606450	chr13:65385894-65385895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575533766	chr13:65385925-65385926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190604233	chr13:65385951-65385952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543009346	chr13:65386078-65386079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561566556	chr13:65386087-65386088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9540227	chr13:65386090-65386091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9592367	chr13:65386113-65386114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368028396	chr13:65386169-65386170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367934348	chr13:65386192-65386193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576164264	chr13:65411232-65411233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187893219	chr13:65411278-65411279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs191277343	chr13:65411280-65411281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542011594	chr13:65411289-65411290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561849778	chr13:65411363-65411364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs182745722	chr13:65411371-65411372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7324326	chr13:65411414-65411415	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375633305	chr13:65411446-65411447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187075267	chr13:65411453-65411454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7325761	chr13:65411477-65411478	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549784416	chr13:65411521-65411522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569780590	chr13:65411558-65411559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568189555	chr13:65411559-65411560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs549091419	chr13:65411578-65411579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535658354	chr13:65411580-65411581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545911661	chr13:65418266-65418267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140124386	chr13:65418271-65418272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576263941	chr13:65418272-65418273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541663371	chr13:65418313-65418314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561991257	chr13:65418355-65418356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568920464	chr13:65418377-65418378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112622568	chr13:65418428-65418429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183360043	chr13:65418438-65418439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559617784	chr13:65418490-65418491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs118005667	chr13:65418535-65418536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564135147	chr13:65418556-65418557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533193174	chr13:65418604-65418605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187895282	chr13:65418623-65418624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533187886	chr13:65418625-65418626	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65384600-65386200	Enhancers	HUVEC	blood vessel
2	chr13:65411200-65411600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:65418200-65420200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:65419400-65419800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:65421600-65423600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:65421800-65422200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:65421800-65422600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:65422000-65422200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:65422000-65423400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:65422000-65423400	Enhancers	Fetal Intestine Small	intestine
11	chr13:65422200-65423400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:65423400-65423800	Enhancers	Adipose Nuclei	Adipose
13	chr13:65423600-65424800	Enhancers	Fetal Lung	lung
14	chr13:65426400-65426800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:65428400-65430000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr13:65432400-65432800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr13:65435000-65436400	Enhancers	Liver	Liver
18	chr13:65440600-65441000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:65440600-65441000	Enhancers	Fetal Stomach	stomach
20	chr13:65443400-65443800	Enhancers	HUVEC	blood vessel
21	chr13:65443800-65445800	Weak transcription	HUVEC	blood vessel
22	chr13:65445800-65446200	Enhancers	HUVEC	blood vessel
23	chr13:65446200-65446400	ZNF genes & repeats	Pancreas	Pancrea
24	chr13:65446200-65446600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:65446600-65451400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:65451400-65451600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:65470000-65470400	Active TSS	Gastric	stomach
28	chr13:65474200-65474400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:65482800-65483800	Enhancers	HUVEC	blood vessel
30	chr13:65483000-65483400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:65483000-65483400	Enhancers	HMEC	breast
32	chr13:65483000-65483600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr13:65483400-65484400	Weak transcription	HMEC	breast
34	chr13:65483400-65485600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:65483600-65485600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:65483800-65485600	Weak transcription	HUVEC	blood vessel
37	chr13:65484400-65485000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:65484400-65487000	Enhancers	HMEC	breast
39	chr13:65485000-65485400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:65485400-65486200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:65485600-65485800	Enhancers	A549	lung
42	chr13:65485600-65486200	Enhancers	NHEK	skin
43	chr13:65485600-65487000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:65485600-65487000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:65485600-65487000	Enhancers	HUVEC	blood vessel
46	chr13:65485600-65487200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:65485600-65487200	Enhancers	NH-A	brain
48	chr13:65485800-65486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:65485800-65486000	Flanking Active TSS	A549	lung
50	chr13:65486000-65486400	Active TSS	A549	lung

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