Variant report

Variant	nsv515955
Chromosome Location	chr21:28025461-28026499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4172	chr21:28025461-28025462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs16997506	chr21:28025475-28025476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573201969	chr21:28025494-28025495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541422086	chr21:28025511-28025512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149193735	chr21:28025597-28025598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533437378	chr21:28025611-28025612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187499044	chr21:28025675-28025676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190787161	chr21:28025682-28025683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2830320	chr21:28025684-28025685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369636028	chr21:28025693-28025694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183204798	chr21:28025732-28025733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377291554	chr21:28025763-28025764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369537302	chr21:28025764-28025765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199594454	chr21:28025767-28025768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397972477	chr21:28025781-28025782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539371378	chr21:28025805-28025806	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2174536	chr21:28025856-28025857	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2174535	chr21:28025876-28025877	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569271765	chr21:28025891-28025892	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369990184	chr21:28025896-28025897	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73898408	chr21:28025905-28025906	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs458076	chr21:28025911-28025912	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537105013	chr21:28025929-28025930	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556790401	chr21:28025930-28025931	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555459591	chr21:28025948-28025949	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116782092	chr21:28026045-28026046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs188092383	chr21:28026087-28026088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192610806	chr21:28026091-28026092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77749674	chr21:28026162-28026163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2135306	chr21:28026191-28026192	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140068330	chr21:28026202-28026203	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs388010	chr21:28026205-28026206	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs34668793	chr21:28026210-28026211	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112047111	chr21:28026221-28026222	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs432551	chr21:28026256-28026257	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563629327	chr21:28026259-28026260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376539458	chr21:28026261-28026262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs145278443	chr21:28026285-28026286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs407030	chr21:28026307-28026308	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544914150	chr21:28026310-28026311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374328682	chr21:28026323-28026324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs571185316	chr21:28026355-28026356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs137936335	chr21:28026377-28026378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550576947	chr21:28026387-28026388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142412092	chr21:28026412-28026413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2830321	chr21:28026456-28026457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10470135	chr21:28026457-28026458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566674681	chr21:28026459-28026460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2830322	chr21:28026499-28026500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28024400-28026000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:28024600-28031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:28025200-28025800	Weak transcription	Fetal Lung	lung
4	chr21:28025800-28026400	ZNF genes & repeats	Fetal Lung	lung

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