Variant report

Variant	esv3450917
Chromosome Location	chr13:62236001-62238099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540566307	chr13:62236007-62236008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs11617966	chr13:62236009-62236010	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189170627	chr13:62236031-62236032	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79519387	chr13:62236113-62236114	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545440614	chr13:62236119-62236120	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79114480	chr13:62236126-62236127	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181871663	chr13:62236139-62236140	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144273857	chr13:62236182-62236183	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112712004	chr13:62236191-62236192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561175877	chr13:62236254-62236255	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs528746042	chr13:62236266-62236267	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186317715	chr13:62236314-62236315	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190716529	chr13:62236320-62236321	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs180723883	chr13:62236523-62236524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570668234	chr13:62236544-62236545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575783260	chr13:62236551-62236552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544486195	chr13:62236562-62236563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2497624	chr13:62236593-62236594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554786550	chr13:62236634-62236635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553170263	chr13:62236637-62236638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200702255	chr13:62236703-62236704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566711723	chr13:62236705-62236706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202070542	chr13:62236706-62236707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534079534	chr13:62236707-62236708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558896071	chr13:62236708-62236709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577930480	chr13:62236709-62236710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533290320	chr13:62236718-62236719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34448370	chr13:62236720-62236721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs66715144	chr13:62236721-62236722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545090964	chr13:62236725-62236726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186255105	chr13:62236731-62236732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397727426	chr13:62236732-62236733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201232423	chr13:62236737-62236738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140100706	chr13:62236751-62236752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141945597	chr13:62236759-62236760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34113001	chr13:62236763-62236764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575628960	chr13:62236776-62236777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59756022	chr13:62236796-62236797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561137480	chr13:62236801-62236802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377368932	chr13:62236808-62236809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573103318	chr13:62236823-62236824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540483270	chr13:62236825-62236826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12873683	chr13:62236829-62236830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201503070	chr13:62236830-62236831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59254707	chr13:62236834-62236835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191178610	chr13:62236843-62236844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182641598	chr13:62236845-62236846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60183214	chr13:62236851-62236852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58190653	chr13:62236857-62236858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569627496	chr13:62236877-62236878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62235800-62236200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:62236200-62236400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:62236400-62236800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:62236800-62237400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:62237400-62238000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:62237600-62238400	Enhancers	HepG2	liver
7	chr13:62237600-62240800	Enhancers	Fetal Intestine Large	intestine
8	chr13:62237800-62240200	Enhancers	Fetal Intestine Small	intestine
9	chr13:62238000-62238800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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