Variant report

Variant	nsv521517
Chromosome Location	chr21:16474158-16482643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16433900..16439805-chr21:16479003..16485421,10	MCF-7	breast:
2	chr21:16472331..16474791-chr21:16561734..16563675,2	MCF-7	breast:
3	chr21:16473730..16476676-chr21:16570598..16572953,2	MCF-7	breast:
4	chr21:16436899..16439316-chr21:16473688..16477461,3	MCF-7	breast:
5	chr21:16389368..16391133-chr21:16479000..16481220,2	K562	blood:
6	chr21:16479952..16481503-chr21:16487749..16489759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	chromatin interactions
ENSG00000236471	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1556286	chr21:16474158-16474159	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192096268	chr21:16474162-16474163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13051766	chr21:16474164-16474165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371703998	chr21:16474185-16474186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375035386	chr21:16474205-16474206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574356542	chr21:16474223-16474224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557601859	chr21:16474237-16474238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536255931	chr21:16474246-16474247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572180578	chr21:16474273-16474274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556153327	chr21:16474276-16474277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146806065	chr21:16474319-16474320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368288053	chr21:16474346-16474347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2823056	chr21:16474374-16474375	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370804382	chr21:16474380-16474381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368770872	chr21:16474381-16474382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182608994	chr21:16474397-16474398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560871986	chr21:16474404-16474405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140545240	chr21:16474422-16474423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549005551	chr21:16474427-16474428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188026378	chr21:16474430-16474431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531860847	chr21:16474431-16474432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551569095	chr21:16474432-16474433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9808701	chr21:16474433-16474434	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372410386	chr21:16474458-16474459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540105186	chr21:16474481-16474482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567967377	chr21:16474498-16474499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192234873	chr21:16474501-16474502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556173323	chr21:16474502-16474503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575929405	chr21:16474522-16474523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79002970	chr21:16474555-16474556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184115310	chr21:16474566-16474567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62218162	chr21:16474629-16474630	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571112916	chr21:16474636-16474637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540831930	chr21:16474644-16474645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369669961	chr21:16474673-16474674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574437614	chr21:16474683-16474684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543289260	chr21:16474690-16474691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529071451	chr21:16474691-16474692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141103128	chr21:16474700-16474701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531623836	chr21:16474711-16474712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9808704	chr21:16474716-16474717	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376896719	chr21:16474722-16474723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs386816490	chr21:16474726-16474727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79138470	chr21:16474735-16474736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565234990	chr21:16474736-16474737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6147423	chr21:16474738-16474739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35983967	chr21:16474739-16474740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372195860	chr21:16474740-16474741	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527743409	chr21:16474749-16474750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2823057	chr21:16474829-16474830	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16475400-16475800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr21:16478400-16480800	Enhancers	Fetal Brain Male	brain
3	chr21:16478800-16479200	Enhancers	K562	blood
4	chr21:16478800-16479400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:16478800-16479800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:16478800-16479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:16478800-16479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:16479800-16485200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:16480800-16481200	Weak transcription	Fetal Brain Male	brain
10	chr21:16481200-16482200	Enhancers	Fetal Brain Male	brain
11	chr21:16481400-16482000	Enhancers	Fetal Brain Female	brain
12	chr21:16482200-16491000	Weak transcription	Fetal Brain Male	brain

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