Variant report

Variant	nsv587343
Chromosome Location	chr21:28543715-28563495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 879 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs406069	chr21:28543715-28543716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551767245	chr21:28543794-28543795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149547689	chr21:28543904-28543905	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533831649	chr21:28543907-28543908	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs34752690	chr21:28543949-28543950	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2830743	chr21:28544002-28544003	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550427339	chr21:28544027-28544028	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570275441	chr21:28544126-28544127	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2040282	chr21:28544137-28544138	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12626723	chr21:28544180-28544181	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548584009	chr21:28544238-28544239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565294773	chr21:28544286-28544287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144130063	chr21:28544288-28544289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148516096	chr21:28544294-28544295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72363297	chr21:28544326-28544327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548711534	chr21:28544330-28544331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386817562	chr21:28544342-28544343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35507706	chr21:28544351-28544352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397773020	chr21:28544359-28544360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534414894	chr21:28544390-28544391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557426651	chr21:28544404-28544405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571391369	chr21:28544422-28544423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574380205	chr21:28544487-28544488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73381059	chr21:28544494-28544495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557467912	chr21:28544496-28544497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557000575	chr21:28544547-28544548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573897459	chr21:28544559-28544560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376604750	chr21:28544593-28544594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559798261	chr21:28544619-28544620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555803716	chr21:28544621-28544622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572470273	chr21:28544668-28544669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541579827	chr21:28544678-28544679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541667472	chr21:28544706-28544707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564591009	chr21:28544709-28544710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78613151	chr21:28544710-28544711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62221621	chr21:28544711-28544712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116079159	chr21:28544730-28544731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563696340	chr21:28544754-28544755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529600723	chr21:28544762-28544763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376982593	chr21:28544765-28544766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372793006	chr21:28544832-28544833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565382737	chr21:28544854-28544855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2830744	chr21:28544908-28544909	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180688133	chr21:28544922-28544923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571296725	chr21:28544925-28544926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2830745	chr21:28545001-28545002	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536879696	chr21:28545002-28545003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557131543	chr21:28545035-28545036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35060484	chr21:28545039-28545040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113799846	chr21:28545057-28545058	Enhancers 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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28543400-28546200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:28543600-28543800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28543600-28544000	Enhancers	Fetal Lung	lung
4	chr21:28543600-28544200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr21:28543600-28544200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr21:28543600-28546200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr21:28543800-28544200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:28543800-28544800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:28543800-28545200	Enhancers	Osteobl	bone
10	chr21:28543800-28545600	Enhancers	NHDF-Ad	bronchial
11	chr21:28543800-28546200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28543800-28546200	Enhancers	Hela-S3	cervix
13	chr21:28544200-28544800	Enhancers	Adipose Nuclei	Adipose
14	chr21:28544200-28546200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:28544600-28544800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:28544800-28562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:28546000-28546200	Enhancers	Pancreas	Pancrea
18	chr21:28546200-28549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:28549600-28550000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:28554800-28555400	Enhancers	Spleen	Spleen
21	chr21:28562200-28563800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:28562200-28563800	Enhancers	Hela-S3	cervix
23	chr21:28562600-28563800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:28562800-28563000	Enhancers	HSMM	muscle
25	chr21:28562800-28563400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:28562800-28563400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:28562800-28563600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:28563000-28563800	Enhancers	Fetal Kidney	kidney
29	chr21:28563000-28563800	Enhancers	Osteobl	bone
30	chr21:28563400-28564400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links