Variant report

Variant	esv11797
Chromosome Location	chr21:41203032-41208686
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	chr21:41195761..41197762-chr21:41207880..41210473,2	MCF-7	breast:

Extended variants
information (count: 293 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555766867	chr21:41203042-41203043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142662628	chr21:41203067-41203068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574991852	chr21:41203084-41203085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528100812	chr21:41203096-41203097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543856220	chr21:41203099-41203100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150583367	chr21:41203105-41203106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55926748	chr21:41203151-41203152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs56347307	chr21:41203158-41203159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115828622	chr21:41203222-41203223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529216933	chr21:41203236-41203237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185662248	chr21:41203253-41203254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114289164	chr21:41203258-41203259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189984111	chr21:41203278-41203279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73369264	chr21:41203279-41203280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538536381	chr21:41203284-41203285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570876423	chr21:41203293-41203294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539999008	chr21:41203302-41203303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372609150	chr21:41203323-41203324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8133735	chr21:41203439-41203440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550857960	chr21:41203460-41203461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535820026	chr21:41203495-41203496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55909830	chr21:41203532-41203533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575516121	chr21:41203542-41203543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537470879	chr21:41203556-41203557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180784030	chr21:41203565-41203566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9974413	chr21:41203589-41203590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577699666	chr21:41203644-41203645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540414052	chr21:41203657-41203658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553732553	chr21:41203715-41203716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573786404	chr21:41203725-41203726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80119866	chr21:41203737-41203738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149717109	chr21:41203745-41203746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386818595	chr21:41203749-41203750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61422649	chr21:41203751-41203752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564586842	chr21:41203775-41203776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187565207	chr21:41203852-41203853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547168440	chr21:41203863-41203864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60241529	chr21:41203867-41203868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs386818596	chr21:41203879-41203880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61437687	chr21:41203880-41203881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6517572	chr21:41203912-41203913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537432056	chr21:41204025-41204026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs459814	chr21:41204047-41204048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs146740688	chr21:41204078-41204079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7283816	chr21:41204081-41204082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188191960	chr21:41204161-41204162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573722169	chr21:41204171-41204172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542863698	chr21:41204208-41204209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563611632	chr21:41204233-41204234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556473406	chr21:41204250-41204251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41199000-41219800	Weak transcription	Pancreas	Pancrea

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