Variant report

Variant	nsv1039461
Chromosome Location	chr13:62938034-62963588
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	chr10:14226242..14228721-chr13:62945923..62948903,2	K562	blood:

Extended variants
information (count: 237 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535150024	chr13:62945415-62945416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535879772	chr13:62945423-62945424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548420661	chr13:62945429-62945430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371016334	chr13:62945453-62945454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568402539	chr13:62945456-62945457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537463675	chr13:62945531-62945532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184538883	chr13:62945549-62945550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558769387	chr13:62945563-62945564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139460553	chr13:62945592-62945593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539133432	chr13:62945672-62945673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557530408	chr13:62945821-62945822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187881521	chr13:62945827-62945828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575552533	chr13:62945830-62945831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144242552	chr13:62945842-62945843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2028777	chr13:62945873-62945874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs528359450	chr13:62945903-62945904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4884417	chr13:62945996-62945997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374332287	chr13:62945998-62945999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552785397	chr13:62946024-62946025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565113774	chr13:62946066-62946067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573732403	chr13:62946089-62946090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192564725	chr13:62946122-62946123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184952874	chr13:62946355-62946356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370538723	chr13:62946409-62946410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17061279	chr13:62946449-62946450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572584660	chr13:62946453-62946454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35671244	chr13:62946526-62946527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532152157	chr13:62946560-62946561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181637330	chr13:62946562-62946563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374027198	chr13:62946575-62946576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367851189	chr13:62946609-62946610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12868036	chr13:62946665-62946666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12868044	chr13:62946693-62946694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370671059	chr13:62946713-62946714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12868161	chr13:62946716-62946717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115153286	chr13:62946729-62946730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566497094	chr13:62946732-62946733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2590492	chr13:62946733-62946734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs552552873	chr13:62946734-62946735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184657666	chr13:62946736-62946737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538046944	chr13:62946762-62946763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114076497	chr13:62946776-62946777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115931689	chr13:62946782-62946783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554648938	chr13:62946791-62946792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74084187	chr13:62946798-62946799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189494510	chr13:62946811-62946812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558834827	chr13:62946812-62946813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114659409	chr13:62946839-62946840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180868796	chr13:62946880-62946881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77758821	chr13:62946900-62946901	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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62945400-62946000	Enhancers	Stomach Mucosa	stomach
2	chr13:62946000-62946400	Weak transcription	Stomach Mucosa	stomach
3	chr13:62946400-62947000	Enhancers	Stomach Mucosa	stomach
4	chr13:62947800-62948200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:62948200-62948600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:62948600-62948800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:62948800-62949000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:62949000-62950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:62950000-62950400	Enhancers	Fetal Brain Female	brain
10	chr13:62961200-62962400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:62961800-62962000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:62962000-62962200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr13:62962000-62962200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:62962000-62962400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:62962000-62962400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:62962200-62962400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:62962400-62962800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:62962600-62963000	Enhancers	HUES48 Cell Line	embryonic stem cell

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