Variant report

Variant	esv996161
Chromosome Location	chr5:100101993-100102783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100084872..100087123-chr5:100099781..100102264,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 83 )

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	rs556762002	chr5:100101993-100101994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186657829	chr5:100102014-100102015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543590472	chr5:100102020-100102021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2725129	chr5:100102026-100102027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192373026	chr5:100102030-100102031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541444685	chr5:100102034-100102035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12332624	chr5:100102052-100102053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533687576	chr5:100102071-100102072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551980878	chr5:100102075-100102076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184757302	chr5:100102086-100102087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545070258	chr5:100102101-100102102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530638928	chr5:100102107-100102108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559941583	chr5:100102168-100102169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71620623	chr5:100102171-100102172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548757002	chr5:100102195-100102196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs278500	chr5:100102225-100102226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs190763759	chr5:100102339-100102340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546170761	chr5:100102417-100102418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571234420	chr5:100102430-100102431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538514456	chr5:100102435-100102436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111646888	chr5:100102437-100102438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181656749	chr5:100102453-100102454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140639850	chr5:100102502-100102503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369401532	chr5:100102517-100102518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536447013	chr5:100102524-100102525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567181460	chr5:100102544-100102545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185480116	chr5:100102578-100102579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10073695	chr5:100102589-100102590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553376953	chr5:100102623-100102624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531733454	chr5:100102639-100102640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189546192	chr5:100102643-100102644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34908673	chr5:100102648-100102649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201768477	chr5:100102652-100102653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200107208	chr5:100102653-100102654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200529586	chr5:100102654-100102655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201732572	chr5:100102655-100102656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531057397	chr5:100102688-100102689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566163900	chr5:100102692-100102693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549948277	chr5:100102716-100102717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs278501	chr5:100102762-100102763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs181411490	chr5:100102770-100102771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100097800-100103800	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links