Variant report

Variant	esv3387798
Chromosome Location	chr13:88016451-88020849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 229 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:229 , 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	rs182837226	chr13:88016469-88016470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112664946	chr13:88016487-88016488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187206190	chr13:88016490-88016491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111304397	chr13:88016518-88016519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546795933	chr13:88016552-88016553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565242431	chr13:88016577-88016578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143870150	chr13:88016578-88016579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9556699	chr13:88016618-88016619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569654745	chr13:88016630-88016631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377101368	chr13:88016637-88016638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536831655	chr13:88016639-88016640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369478620	chr13:88016655-88016656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567144943	chr13:88016668-88016669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189665772	chr13:88016698-88016699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148756252	chr13:88016702-88016703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572770294	chr13:88016741-88016742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182376358	chr13:88016844-88016845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557675042	chr13:88016845-88016846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576035949	chr13:88016846-88016847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543365335	chr13:88016896-88016897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561434924	chr13:88016922-88016923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573484632	chr13:88016926-88016927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553211059	chr13:88016941-88016942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374079391	chr13:88016994-88016995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565282108	chr13:88017015-88017016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112990121	chr13:88017032-88017033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188643122	chr13:88017041-88017042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544311914	chr13:88017049-88017050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563217230	chr13:88017062-88017063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193289720	chr13:88017107-88017108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548880145	chr13:88017111-88017112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185091503	chr13:88017123-88017124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528323966	chr13:88017143-88017144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546667906	chr13:88017153-88017154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571291920	chr13:88017200-88017201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538606854	chr13:88017207-88017208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142399389	chr13:88017283-88017284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188855644	chr13:88017349-88017350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191652081	chr13:88017370-88017371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555303991	chr13:88017385-88017386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573381261	chr13:88017405-88017406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540510616	chr13:88017408-88017409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116339143	chr13:88017417-88017418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369571447	chr13:88017425-88017426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183826108	chr13:88017462-88017463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544319582	chr13:88017473-88017474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150881107	chr13:88017474-88017475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111576045	chr13:88017483-88017484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530044222	chr13:88017513-88017514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542512195	chr13:88017543-88017544	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88015200-88025000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:88020600-88021200	Active TSS	Hela-S3	cervix

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