Variant report

Variant	nsv519258
Chromosome Location	chr21:16904025-16904508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2823333	chr21:16904025-16904026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558773852	chr21:16904035-16904036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35435898	chr21:16904047-16904048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141793440	chr21:16904048-16904049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397703276	chr21:16904049-16904050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530726224	chr21:16904090-16904091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144444248	chr21:16904110-16904111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2823334	chr21:16904114-16904115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374527808	chr21:16904165-16904166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185977183	chr21:16904184-16904185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148392411	chr21:16904200-16904201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188745634	chr21:16904223-16904224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554852604	chr21:16904230-16904231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538271979	chr21:16904236-16904237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568268487	chr21:16904290-16904291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546319801	chr21:16904307-16904308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573789616	chr21:16904318-16904319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537665527	chr21:16904324-16904325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8133973	chr21:16904381-16904382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542762342	chr21:16904382-16904383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373136815	chr21:16904496-16904497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553042297	chr21:16904506-16904507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377243930	chr21:16904507-16904508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2823335	chr21:16904508-16904509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:66)

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	20409316	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16901200-16906200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:16904200-16904800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:16904400-16906800	Enhancers	Dnd41	blood

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