Variant report

Variant	esv3419651
Chromosome Location	chr13:51651301-51653549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540185028	chr13:51651339-51651340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9568506	chr13:51651365-51651366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573372474	chr13:51651410-51651411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113616460	chr13:51651427-51651428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542291401	chr13:51651430-51651431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562275514	chr13:51651435-51651436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531389965	chr13:51651438-51651439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544853607	chr13:51651451-51651452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565143741	chr13:51651472-51651473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527602389	chr13:51651480-51651481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547736869	chr13:51651497-51651498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9563017	chr13:51651519-51651520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530146898	chr13:51651531-51651532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550283602	chr13:51651548-51651549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570204757	chr13:51651556-51651557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149158478	chr13:51651567-51651568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558893084	chr13:51651576-51651577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566328244	chr13:51651632-51651633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535027643	chr13:51651654-51651655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555269075	chr13:51651660-51651661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34992595	chr13:51651679-51651680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35062255	chr13:51651693-51651694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554958080	chr13:51651702-51651703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573282906	chr13:51651710-51651711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113285462	chr13:51651716-51651717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34071964	chr13:51651744-51651745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535881210	chr13:51651778-51651779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112814029	chr13:51651796-51651797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187690821	chr13:51651805-51651806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192650642	chr13:51651815-51651816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575738833	chr13:51651844-51651845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545150100	chr13:51651846-51651847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141498094	chr13:51651847-51651848	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs183341327	chr13:51651854-51651855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187515496	chr13:51651865-51651866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377079881	chr13:51651884-51651885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572277613	chr13:51651898-51651899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540946277	chr13:51651905-51651906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371089926	chr13:51651906-51651907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573708651	chr13:51651942-51651943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374605494	chr13:51652011-51652012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368245488	chr13:51652088-51652089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370809732	chr13:51652118-51652119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563731574	chr13:51652130-51652131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532668320	chr13:51652139-51652140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552709582	chr13:51652194-51652195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534175619	chr13:51652200-51652201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535950141	chr13:51652207-51652208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566118794	chr13:51652221-51652222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61964080	chr13:51652232-51652233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51633400-51657800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51652800-51667000	Weak transcription	Right Atrium	heart

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