Variant report

Variant	nsv587340
Chromosome Location	chr21:28198927-28201637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557557192	chr21:28198939-28198940	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577496591	chr21:28198986-28198987	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531362693	chr21:28199122-28199123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372764028	chr21:28199131-28199132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543275477	chr21:28199172-28199173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375800676	chr21:28199180-28199181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1899853	chr21:28199230-28199231	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576338814	chr21:28199264-28199265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541866836	chr21:28199315-28199316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370687512	chr21:28199357-28199358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562202467	chr21:28199371-28199372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375191442	chr21:28199373-28199374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527812219	chr21:28199398-28199399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547956860	chr21:28199411-28199412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564636499	chr21:28199434-28199435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79081976	chr21:28199483-28199484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35146832	chr21:28199496-28199497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533589595	chr21:28199511-28199512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185238026	chr21:28199534-28199535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570376485	chr21:28199536-28199537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545010241	chr21:28199541-28199542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548752999	chr21:28199595-28199596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565743946	chr21:28199611-28199612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534452696	chr21:28199633-28199634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140363068	chr21:28199646-28199647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150375269	chr21:28199661-28199662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192279960	chr21:28199688-28199689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556796810	chr21:28199706-28199707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34909074	chr21:28199762-28199763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184018971	chr21:28199765-28199766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186914769	chr21:28199782-28199783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111434125	chr21:28199839-28199840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572421905	chr21:28199909-28199910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55714689	chr21:28199927-28199928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541510098	chr21:28199944-28199945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564574414	chr21:28200045-28200046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7277043	chr21:28200072-28200073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4143410	chr21:28200107-28200108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544072950	chr21:28200113-28200114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372355113	chr21:28200144-28200145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183165276	chr21:28200154-28200155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529586018	chr21:28200161-28200162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548946794	chr21:28200173-28200174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564691582	chr21:28200200-28200201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565503106	chr21:28200222-28200223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527263670	chr21:28200241-28200242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187178555	chr21:28200323-28200324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371367476	chr21:28200377-28200378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112056700	chr21:28200407-28200408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs229032	chr21:28200449-28200450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	19212409	CNVD
Hypoplastic left heart syndrome	22349727	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28192600-28199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:28198600-28199000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:28198600-28199400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:28198800-28199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:28198800-28199200	Enhancers	NHDF-Ad	bronchial
6	chr21:28198800-28199400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:28198800-28199800	Weak transcription	Dnd41	blood
8	chr21:28198800-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:28199000-28199200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:28199000-28200600	Enhancers	HMEC	breast
11	chr21:28199000-28208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:28199200-28199800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:28199200-28200600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:28199200-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:28199200-28208800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:28199400-28200600	Enhancers	NHEK	skin
17	chr21:28199400-28203600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:28199400-28205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:28199600-28199800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:28199800-28200600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:28199800-28200600	Enhancers	Dnd41	blood
22	chr21:28199800-28205200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr21:28199800-28208800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:28200600-28203200	Weak transcription	Dnd41	blood
25	chr21:28200600-28205000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr21:28200600-28205400	Weak transcription	NHEK	skin
27	chr21:28200600-28205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:28200600-28205800	Weak transcription	HMEC	breast
29	chr21:28200600-28208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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