Variant report

Variant	esv3495580
Chromosome Location	chr13:29750199-29751416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368062545	chr13:29750200-29750201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184691917	chr13:29750261-29750262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572375369	chr13:29750288-29750289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541000136	chr13:29750294-29750295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149451939	chr13:29750351-29750352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77567693	chr13:29750352-29750353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143884304	chr13:29750356-29750357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563087577	chr13:29750426-29750427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148263825	chr13:29750430-29750431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557748107	chr13:29750436-29750437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551561709	chr13:29750463-29750464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114573187	chr13:29750583-29750584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527991606	chr13:29750587-29750588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547368740	chr13:29750591-29750592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567579891	chr13:29750614-29750615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190794307	chr13:29750621-29750622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141357310	chr13:29750640-29750641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570145994	chr13:29750691-29750692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538793829	chr13:29750704-29750705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558812079	chr13:29750743-29750744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572336377	chr13:29750784-29750785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180803894	chr13:29750803-29750804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372899996	chr13:29750850-29750851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541042489	chr13:29750896-29750897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74660590	chr13:29750908-29750909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543414535	chr13:29750931-29750932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12865401	chr13:29750943-29750944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576551187	chr13:29750944-29750945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545160828	chr13:29750955-29750956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541915736	chr13:29750985-29750986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565169411	chr13:29751064-29751065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527954678	chr13:29751084-29751085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115820191	chr13:29751093-29751094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561328656	chr13:29751097-29751098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530003720	chr13:29751098-29751099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550154510	chr13:29751108-29751109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570026949	chr13:29751140-29751141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17072880	chr13:29751193-29751194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539151981	chr13:29751199-29751200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552385048	chr13:29751239-29751240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150758988	chr13:29751276-29751277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116981831	chr13:29751300-29751301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554526796	chr13:29751329-29751330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9550441	chr13:29751340-29751341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536614878	chr13:29751396-29751397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29734400-29752600	Weak transcription	Aorta	Aorta
2	chr13:29745600-29752400	Weak transcription	Fetal Heart	heart
3	chr13:29749400-29750600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:29750000-29751000	Weak transcription	Dnd41	blood
5	chr13:29751000-29751200	Enhancers	Dnd41	blood

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