Variant report

Variant	nsv514948
Chromosome Location	chr21:16588429-16589908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16586904..16589804-chr21:16590773..16592275,2	K562	blood:
2	chr21:16586940..16589372-chr21:16591214..16594501,3	MCF-7	breast:
3	chr21:16249191..16252092-chr21:16587437..16590052,2	MCF-7	breast:
4	chr21:16421751..16443998-chr21:16557859..16589610,273	MCF-7	breast:
5	chr21:16584216..16586791-chr21:16587079..16588631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236471	chromatin interactions
ENSG00000180530	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373523472	chr21:16588585-16588586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs377583837	chr21:16588663-16588664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187060383	chr21:16588675-16588676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2823156	chr21:16588680-16588681	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2823157	chr21:16588690-16588691	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191126364	chr21:16588705-16588706	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs180695164	chr21:16588724-16588725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532200571	chr21:16588749-16588750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs75657636	chr21:16588763-16588764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185032487	chr21:16588774-16588775	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527811227	chr21:16588836-16588837	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190283820	chr21:16588851-16588852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113651907	chr21:16588860-16588861	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573739715	chr21:16588881-16588882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567676079	chr21:16588890-16588891	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530374177	chr21:16588921-16588922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182445640	chr21:16588933-16588934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188792971	chr21:16588974-16588975	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138796554	chr21:16588989-16588990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191439501	chr21:16589035-16589036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542786451	chr21:16589090-16589091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113137936	chr21:16589108-16589109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184129430	chr21:16589129-16589130	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534426924	chr21:16589182-16589183	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575974695	chr21:16589262-16589263	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553724377	chr21:16589275-16589276	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554102467	chr21:16589313-16589314	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs574351496	chr21:16589367-16589368	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148942592	chr21:16589384-16589385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188587938	chr21:16589417-16589418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545270673	chr21:16589465-16589466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545995197	chr21:16589496-16589497	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559606075	chr21:16589513-16589514	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76170748	chr21:16589524-16589525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201454279	chr21:16589525-16589526	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs11910703	chr21:16589526-16589527	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372119056	chr21:16589530-16589531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556328194	chr21:16589531-16589532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563808053	chr21:16589552-16589553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539567226	chr21:16589602-16589603	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576258376	chr21:16589643-16589644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556103414	chr21:16589709-16589710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186789000	chr21:16589712-16589713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565942644	chr21:16589738-16589739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540780798	chr21:16589749-16589750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77397621	chr21:16589782-16589783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114837960	chr21:16589826-16589827	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	22522925	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16585400-16592000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr21:16585600-16591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:16586000-16591400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:16586400-16592400	Weak transcription	Liver	Liver
5	chr21:16587800-16588600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:16588600-16591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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