Variant report

Variant	nsv913665
Chromosome Location	chr21:28670180-28712418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28670191..28672076-chr21:28673171..28674727,2	K562	blood:
2	chr21:28670191..28672076-chr21:28673171..28674727,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-4	chr21:28711256-28711350	l_2187_chr21:28711255-28725596_prostate

Extended variants
information (count: 1170 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1170 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2830842	chr21:28670180-28670181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543235698	chr21:28670191-28670192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144577501	chr21:28670197-28670198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565678081	chr21:28670221-28670222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180911408	chr21:28670230-28670231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73371971	chr21:28670268-28670269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117986266	chr21:28670269-28670270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148720190	chr21:28670307-28670308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557324785	chr21:28670325-28670326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551491385	chr21:28670343-28670344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs239685	chr21:28670349-28670350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542292928	chr21:28670358-28670359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187090440	chr21:28670383-28670384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572311847	chr21:28670408-28670409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369482119	chr21:28670417-28670418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142296141	chr21:28670439-28670440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564397255	chr21:28670453-28670454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533365508	chr21:28670474-28670475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549947873	chr21:28670480-28670481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146300983	chr21:28670493-28670494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77149405	chr21:28670553-28670554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549370064	chr21:28670574-28670575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549268423	chr21:28670610-28670611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567411238	chr21:28670611-28670612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs239686	chr21:28670634-28670635	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144278374	chr21:28670668-28670669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566526233	chr21:28670691-28670692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551468441	chr21:28670702-28670703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190708668	chr21:28670740-28670741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565191125	chr21:28670749-28670750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182267968	chr21:28670763-28670764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577398653	chr21:28670817-28670818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557191787	chr21:28670818-28670819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146611975	chr21:28670833-28670834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536561852	chr21:28670878-28670879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186016807	chr21:28670905-28670906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538790951	chr21:28670950-28670951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141028181	chr21:28670980-28670981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541033936	chr21:28671012-28671013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78762983	chr21:28671059-28671060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577711192	chr21:28671068-28671069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543648255	chr21:28671178-28671179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61443607	chr21:28671202-28671203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370793130	chr21:28671210-28671211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34464467	chr21:28671211-28671212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200903486	chr21:28671260-28671261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376155940	chr21:28671262-28671263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543324478	chr21:28671273-28671274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13052868	chr21:28671301-28671302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs239688	chr21:28671320-28671321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Gastric cancer	18160780	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28663200-28670400	Weak transcription	NHDF-Ad	bronchial
2	chr21:28669000-28679800	Weak transcription	Psoas Muscle	Psoas
3	chr21:28670200-28671800	Enhancers	Ovary	ovary
4	chr21:28670400-28671200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:28670400-28671800	Enhancers	NHDF-Ad	bronchial
6	chr21:28670400-28672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28670600-28670800	Enhancers	Fetal Stomach	stomach
8	chr21:28670600-28671000	Enhancers	Brain Cingulate Gyrus	brain
9	chr21:28670600-28671200	Enhancers	Pancreas	Pancrea
10	chr21:28670800-28672200	Weak transcription	Fetal Stomach	stomach
11	chr21:28671200-28672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:28671600-28671800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:28671800-28673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:28671800-28673000	Weak transcription	NHDF-Ad	bronchial
15	chr21:28671800-28680400	Weak transcription	Ovary	ovary
16	chr21:28672000-28673000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:28672200-28672400	Enhancers	Fetal Stomach	stomach
18	chr21:28672400-28678000	Weak transcription	Fetal Stomach	stomach
19	chr21:28672800-28674600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:28673000-28673800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:28673000-28674000	Enhancers	NHDF-Ad	bronchial
22	chr21:28673000-28674600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:28673000-28674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:28673200-28674400	Enhancers	Fetal Lung	lung
25	chr21:28674000-28677800	Weak transcription	NHDF-Ad	bronchial
26	chr21:28674400-28678600	Weak transcription	Fetal Lung	lung
27	chr21:28674600-28677800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:28674600-28677800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:28674600-28678400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:28677800-28678000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:28677800-28678600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:28677800-28678800	Enhancers	NHDF-Ad	bronchial
33	chr21:28678000-28678200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:28678000-28679200	Enhancers	Fetal Stomach	stomach
35	chr21:28678200-28678400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:28678400-28678600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:28678400-28679000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr21:28678600-28679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:28678600-28679000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:28678600-28680000	Enhancers	Adipose Nuclei	Adipose
41	chr21:28678600-28680800	Enhancers	Fetal Lung	lung
42	chr21:28678800-28679200	Flanking Active TSS	NHDF-Ad	bronchial
43	chr21:28678800-28680600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:28679000-28679200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:28679000-28679400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:28679000-28679400	Enhancers	Brain Hippocampus Middle	brain
47	chr21:28679000-28679600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:28679200-28680200	Weak transcription	Fetal Stomach	stomach
49	chr21:28679200-28680800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:28679200-28681000	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links