Variant report

Variant	esv3409406
Chromosome Location	chr13:38615702-38617750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565646221	chr13:38615713-38615714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11147683	chr13:38615727-38615728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192864097	chr13:38615763-38615764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571584814	chr13:38615825-38615826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537195721	chr13:38615844-38615845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557201960	chr13:38615861-38615862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368112649	chr13:38615894-38615895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11147684	chr13:38615915-38615916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375756048	chr13:38615924-38615925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530938409	chr13:38615932-38615933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182698870	chr13:38616042-38616043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543104225	chr13:38616050-38616051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562454805	chr13:38616062-38616063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151122090	chr13:38616063-38616064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369629632	chr13:38616080-38616081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs8001914	chr13:38616086-38616087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187864996	chr13:38616148-38616149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545090588	chr13:38616154-38616155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146665195	chr13:38616252-38616253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531115176	chr13:38616285-38616286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4284517	chr13:38616345-38616346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561139405	chr13:38616353-38616354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530256511	chr13:38616366-38616367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549044848	chr13:38616396-38616397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148440435	chr13:38616445-38616446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375253408	chr13:38616455-38616456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528058841	chr13:38616504-38616505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551398178	chr13:38616518-38616519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571525040	chr13:38616526-38616527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537332506	chr13:38616550-38616551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547187434	chr13:38616557-38616558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374938887	chr13:38616595-38616596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76729151	chr13:38616598-38616599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200385789	chr13:38616610-38616611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201074409	chr13:38616615-38616616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369240209	chr13:38616617-38616618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71100345	chr13:38616618-38616619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4362260	chr13:38616619-38616620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200345767	chr13:38616621-38616622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112554423	chr13:38616635-38616636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201539018	chr13:38616636-38616637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71198470	chr13:38616638-38616639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377179769	chr13:38616639-38616640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557339107	chr13:38616655-38616656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201582921	chr13:38616658-38616659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567434030	chr13:38616659-38616660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536092218	chr13:38616661-38616662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9548165	chr13:38616665-38616666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553398707	chr13:38616669-38616670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9566289	chr13:38616671-38616672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	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
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38604200-38619200	Weak transcription	Pancreas	Pancrea
2	chr13:38606400-38621400	Weak transcription	Right Ventricle	heart
3	chr13:38615600-38619400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:38616000-38621200	Weak transcription	Liver	Liver
5	chr13:38617000-38617400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:38617400-38619000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links