Variant report

Variant	nsv979503
Chromosome Location	chr21:28368438-28369483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2830607	chr21:28368464-28368465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564341757	chr21:28368516-28368517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185729488	chr21:28368544-28368545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190549865	chr21:28368585-28368586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569379294	chr21:28368640-28368641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181872151	chr21:28368677-28368678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548655594	chr21:28368704-28368705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568595522	chr21:28368733-28368734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557291434	chr21:28368752-28368753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34253788	chr21:28368802-28368803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554191501	chr21:28368812-28368813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140779798	chr21:28368851-28368852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565746683	chr21:28368868-28368869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145908297	chr21:28368877-28368878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539463420	chr21:28368963-28368964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138718742	chr21:28368991-28368992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575621603	chr21:28368999-28369000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139148374	chr21:28369013-28369014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2830608	chr21:28369094-28369095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561798035	chr21:28369141-28369142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572166888	chr21:28369163-28369164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541182843	chr21:28369189-28369190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117722135	chr21:28369237-28369238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16979580	chr21:28369252-28369253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77782891	chr21:28369256-28369257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs173038	chr21:28369271-28369272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376103194	chr21:28369302-28369303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562912582	chr21:28369303-28369304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79366086	chr21:28369315-28369316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188627808	chr21:28369385-28369386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568515085	chr21:28369416-28369417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181333796	chr21:28369448-28369449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534146592	chr21:28369455-28369456	Weak transcription	n/a	n/a	Overlapped CNVs	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28351800-28416600	Weak transcription	Ovary	ovary
2	chr21:28366600-28394800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:28367400-28373400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links