Variant report

Variant	esv3410026
Chromosome Location	chr13:88013101-88015049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377428573	chr13:88013129-88013130	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73563779	chr13:88013135-88013136	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189935236	chr13:88013137-88013138	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533232826	chr13:88013142-88013143	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551434255	chr13:88013160-88013161	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370492353	chr13:88013174-88013175	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138586280	chr13:88013223-88013224	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9584538	chr13:88013259-88013260	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566432402	chr13:88013291-88013292	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146777011	chr13:88013404-88013405	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs67317821	chr13:88013405-88013406	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533772015	chr13:88013432-88013433	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570568932	chr13:88013433-88013434	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559197101	chr13:88013436-88013437	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571095807	chr13:88013453-88013454	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538415210	chr13:88013476-88013477	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150786105	chr13:88013500-88013501	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556453647	chr13:88013504-88013505	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543629193	chr13:88013528-88013529	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115850644	chr13:88013530-88013531	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180727682	chr13:88013561-88013562	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35424355	chr13:88013582-88013583	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200786095	chr13:88013641-88013642	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549262302	chr13:88013649-88013650	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567444060	chr13:88013662-88013663	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572106108	chr13:88013668-88013669	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545919010	chr13:88013683-88013684	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185216745	chr13:88013698-88013699	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112760186	chr13:88013778-88013779	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199776322	chr13:88013816-88013817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373045118	chr13:88013828-88013829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544515437	chr13:88013829-88013830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376253562	chr13:88013830-88013831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9300400	chr13:88013831-88013832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371312831	chr13:88013832-88013833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374517659	chr13:88013833-88013834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377574574	chr13:88013835-88013836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562636761	chr13:88013837-88013838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529922586	chr13:88013849-88013850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112801222	chr13:88013878-88013879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9300401	chr13:88013884-88013885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572356941	chr13:88013891-88013892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375620694	chr13:88013892-88013893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369479844	chr13:88013898-88013899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371817080	chr13:88013900-88013901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370457063	chr13:88013903-88013904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374445000	chr13:88013908-88013909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141651303	chr13:88013909-88013910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566615143	chr13:88013911-88013912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200769844	chr13:88013916-88013917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88012600-88013800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:88013800-88014400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:88014400-88015200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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