Variant report

Variant	esv3410462
Chromosome Location	chr13:38578002-38580200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34399643	chr13:38578028-38578029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527279058	chr13:38578036-38578037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533909371	chr13:38578038-38578039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558022906	chr13:38578064-38578065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553768422	chr13:38578072-38578073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547301834	chr13:38578129-38578130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570373985	chr13:38578146-38578147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568684573	chr13:38578169-38578170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536125143	chr13:38578181-38578182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192654702	chr13:38578265-38578266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149597790	chr13:38578323-38578324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143278405	chr13:38578336-38578337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541602799	chr13:38578349-38578350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138853437	chr13:38578360-38578361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371995446	chr13:38578365-38578366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578229627	chr13:38578366-38578367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374803255	chr13:38578369-38578370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540682116	chr13:38578398-38578399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141765576	chr13:38578412-38578413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539987237	chr13:38578450-38578451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564460700	chr13:38578467-38578468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146231772	chr13:38578475-38578476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553984906	chr13:38578511-38578512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74047771	chr13:38578515-38578516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9315533	chr13:38578524-38578525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549580405	chr13:38578533-38578534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57756034	chr13:38578546-38578547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397727646	chr13:38578547-38578548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141784289	chr13:38578688-38578689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368885077	chr13:38578712-38578713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139705263	chr13:38578741-38578742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371355400	chr13:38578758-38578759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527352933	chr13:38578792-38578793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547178212	chr13:38578803-38578804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375925122	chr13:38578834-38578835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533916985	chr13:38578835-38578836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570385405	chr13:38578873-38578874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368030556	chr13:38578894-38578895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539061273	chr13:38578898-38578899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57547126	chr13:38578968-38578969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59192513	chr13:38578969-38578970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57372142	chr13:38578971-38578972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3029095	chr13:38578991-38578992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71198465	chr13:38578992-38578993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113089263	chr13:38579012-38579013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2485498	chr13:38579044-38579045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535377488	chr13:38579084-38579085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562928534	chr13:38579126-38579127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555116839	chr13:38579148-38579149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571914973	chr13:38579149-38579150	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38576600-38578400	Enhancers	Primary hematopoietic stem cells	blood
2	chr13:38577600-38578400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:38578000-38582600	Weak transcription	Stomach Mucosa	stomach

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