Variant report

Variant	esv18316
Chromosome Location	chr13:64935358-64943378
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117631890	chr13:64941614-64941615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201790713	chr13:64941616-64941617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543688145	chr13:64941632-64941633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373668095	chr13:64941661-64941662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370591912	chr13:64941695-64941696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141130993	chr13:64941702-64941703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1417188	chr13:64941705-64941706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533197374	chr13:64941712-64941713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373710496	chr13:64941721-64941722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114969568	chr13:64941775-64941776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569882352	chr13:64941777-64941778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530818793	chr13:64941792-64941793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574829177	chr13:64941795-64941796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150909529	chr13:64941796-64941797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534711086	chr13:64941807-64941808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9571182	chr13:64941831-64941832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs61949915	chr13:64941833-64941834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571916550	chr13:64941895-64941896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546489033	chr13:64941913-64941914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138524392	chr13:64941922-64941923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144069871	chr13:64941924-64941925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189398934	chr13:64941926-64941927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182248371	chr13:64941935-64941936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532104384	chr13:64941949-64941950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371017631	chr13:64941962-64941963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541219435	chr13:64941972-64941973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147307835	chr13:64941990-64941991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533232897	chr13:64942031-64942032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76888340	chr13:64942047-64942048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78345095	chr13:64942073-64942074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9598776	chr13:64942083-64942084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530736967	chr13:64942096-64942097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140909375	chr13:64942129-64942130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561073266	chr13:64942176-64942177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186038123	chr13:64942185-64942186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540877052	chr13:64942211-64942212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190838526	chr13:64942230-64942231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372075987	chr13:64942250-64942251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4261411	chr13:64942263-64942264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550324651	chr13:64942280-64942281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568785429	chr13:64942309-64942310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200362630	chr13:64942326-64942327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564027112	chr13:64942333-64942334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374012364	chr13:64942336-64942337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537351619	chr13:64942343-64942344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183031921	chr13:64942355-64942356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573995280	chr13:64942390-64942391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61949916	chr13:64942404-64942405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114701625	chr13:64942426-64942427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370631442	chr13:64942429-64942430	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	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64941600-64942000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:64942000-64942600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:64942200-64942600	Enhancers	HMEC	breast
4	chr13:64942600-64944200	Weak transcription	HMEC	breast
5	chr13:64943200-64943600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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