Variant report

Variant	esv275288
Chromosome Location	chr13:62961967-62967176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12431064	chr13:62961967-62961968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187595969	chr13:62961980-62961981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113256651	chr13:62962009-62962010	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533574541	chr13:62962029-62962030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544749304	chr13:62962033-62962034	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35554166	chr13:62962054-62962055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs66531564	chr13:62962055-62962056	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563398623	chr13:62962063-62962064	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563058925	chr13:62962089-62962090	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549648379	chr13:62962129-62962130	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150479690	chr13:62962142-62962143	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548546241	chr13:62962159-62962160	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138494844	chr13:62962165-62962166	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192827499	chr13:62962221-62962222	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551770346	chr13:62962232-62962233	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571592944	chr13:62962250-62962251	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571310213	chr13:62962254-62962255	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538851489	chr13:62962263-62962264	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528006271	chr13:62962278-62962279	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35959855	chr13:62962281-62962282	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs67879345	chr13:62962282-62962283	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551867481	chr13:62962288-62962289	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570151135	chr13:62962292-62962293	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372966700	chr13:62962316-62962317	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs1572405	chr13:62962349-62962350	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555795790	chr13:62962371-62962372	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12875940	chr13:62962377-62962378	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142932393	chr13:62962404-62962405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549962626	chr13:62962407-62962408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570188330	chr13:62962432-62962433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578083994	chr13:62962442-62962443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372571811	chr13:62962447-62962448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564565546	chr13:62962468-62962469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146113095	chr13:62962483-62962484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115807205	chr13:62962525-62962526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376899362	chr13:62962531-62962532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116955796	chr13:62962584-62962585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532000951	chr13:62962620-62962621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57144414	chr13:62962644-62962645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370108444	chr13:62962652-62962653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559017202	chr13:62962654-62962655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373032080	chr13:62962678-62962679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184849851	chr13:62962695-62962696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140137318	chr13:62962696-62962697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557626842	chr13:62962718-62962719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149366156	chr13:62962736-62962737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35719124	chr13:62962738-62962739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs398077320	chr13:62962747-62962748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543827445	chr13:62962821-62962822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144734366	chr13:62962844-62962845	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62961200-62962400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:62961800-62962000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:62962000-62962200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr13:62962000-62962200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:62962000-62962400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:62962000-62962400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:62962200-62962400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:62962400-62962800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:62962600-62963000	Enhancers	HUES48 Cell Line	embryonic stem cell

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