Variant report

Variant	esv3358532
Chromosome Location	chr21:17380631-17382679
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	chr21:17379808..17382152-chr21:17382746..17385605,3	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11088561	chr21:17380633-17380634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11911310	chr21:17380678-17380679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141807673	chr21:17380689-17380690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182157901	chr21:17380769-17380770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567940267	chr21:17380792-17380793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570240568	chr21:17380921-17380922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57857246	chr21:17381048-17381049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552261127	chr21:17381057-17381058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566095648	chr21:17381081-17381082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548112657	chr21:17381106-17381107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555103681	chr21:17381118-17381119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185108146	chr21:17381135-17381136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536844694	chr21:17381180-17381181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567916749	chr21:17381207-17381208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557153994	chr21:17381242-17381243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577039375	chr21:17381245-17381246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372752301	chr21:17381291-17381292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2823546	chr21:17381295-17381296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190749475	chr21:17381305-17381306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529093258	chr21:17381333-17381334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541473869	chr21:17381339-17381340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548521771	chr21:17381359-17381360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181916264	chr21:17381431-17381432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138594275	chr21:17381452-17381453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143813688	chr21:17381464-17381465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150624192	chr21:17381496-17381497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113651749	chr21:17381603-17381604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138772195	chr21:17381623-17381624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114436590	chr21:17381632-17381633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16992521	chr21:17381666-17381667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570127068	chr21:17381683-17381684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528489584	chr21:17381708-17381709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186097035	chr21:17381710-17381711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116091082	chr21:17381727-17381728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538758810	chr21:17381731-17381732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549256721	chr21:17381752-17381753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60780925	chr21:17381763-17381764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148212182	chr21:17381771-17381772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570639001	chr21:17381842-17381843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149383417	chr21:17381879-17381880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73189389	chr21:17381888-17381889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572844526	chr21:17381947-17381948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535069757	chr21:17381948-17381949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554974767	chr21:17381964-17381965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575221942	chr21:17381990-17381991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534275984	chr21:17381997-17381998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544310699	chr21:17382001-17382002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563692183	chr21:17382004-17382005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577372793	chr21:17382011-17382012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143991332	chr21:17382020-17382021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17380400-17380800	Enhancers	Osteobl	bone
2	chr21:17380800-17384000	Weak transcription	Osteobl	bone

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