Variant report

Variant	esv2488032
Chromosome Location	chr20:41038745-41040244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372148033	chr20:41038799-41038800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141436962	chr20:41038864-41038865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528945643	chr20:41038932-41038933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542728071	chr20:41038956-41038957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562496660	chr20:41038960-41038961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571539593	chr20:41039041-41039042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113597285	chr20:41039085-41039086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35324452	chr20:41039142-41039143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571616763	chr20:41039160-41039161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145138492	chr20:41039191-41039192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6072731	chr20:41039198-41039199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566889751	chr20:41039206-41039207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184082239	chr20:41039232-41039233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573263114	chr20:41039259-41039260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138974918	chr20:41039304-41039305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569314183	chr20:41039310-41039311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538476460	chr20:41039365-41039366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558005203	chr20:41039392-41039393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150861049	chr20:41039710-41039711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565163778	chr20:41039757-41039758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527549757	chr20:41039803-41039804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149573991	chr20:41039850-41039851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111699656	chr20:41039851-41039852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191012521	chr20:41039856-41039857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529300087	chr20:41039902-41039903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182442073	chr20:41039943-41039944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369557773	chr20:41039957-41039958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35001151	chr20:41039995-41039996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373114569	chr20:41040029-41040030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569359217	chr20:41040054-41040055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8118149	chr20:41040070-41040071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187103871	chr20:41040100-41040101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571526410	chr20:41040105-41040106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565646190	chr20:41040111-41040112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369166414	chr20:41040121-41040122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10591184	chr20:41040158-41040159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146584490	chr20:41040176-41040177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs398035742	chr20:41040178-41040179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375808934	chr20:41040181-41040182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536291754	chr20:41040183-41040184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75808308	chr20:41040188-41040189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41022400-41039400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41039600-41040200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links