Variant report

Variant	nsv913662
Chromosome Location	chr21:28632360-28702427
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:

Extended variants
information (count: 2449 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2449 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs235925	chr21:28632360-28632361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571103136	chr21:28632369-28632370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536998651	chr21:28632374-28632375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs235926	chr21:28632392-28632393	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs171008	chr21:28632409-28632410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541877149	chr21:28632431-28632432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535876321	chr21:28632500-28632501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115408370	chr21:28632574-28632575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572579863	chr21:28632582-28632583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146142985	chr21:28632590-28632591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138537885	chr21:28632640-28632641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533543309	chr21:28632669-28632670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183817464	chr21:28632670-28632671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563842683	chr21:28632673-28632674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149232664	chr21:28632677-28632678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550629306	chr21:28632710-28632711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548706555	chr21:28632735-28632736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565296910	chr21:28632757-28632758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144500587	chr21:28632787-28632788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377062621	chr21:28632836-28632837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571139246	chr21:28632852-28632853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536860792	chr21:28632859-28632860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116126166	chr21:28632880-28632881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188642104	chr21:28632889-28632890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529631088	chr21:28632936-28632937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369072069	chr21:28632972-28632973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555517357	chr21:28633086-28633087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114665328	chr21:28633118-28633119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180728968	chr21:28633153-28633154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541565579	chr21:28633172-28633173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558266654	chr21:28633204-28633205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138888969	chr21:28633213-28633214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370466344	chr21:28633214-28633215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554532591	chr21:28633217-28633218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578118763	chr21:28633239-28633240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56102088	chr21:28633256-28633257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149591964	chr21:28633258-28633259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185022337	chr21:28633266-28633267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371863913	chr21:28633326-28633327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191140577	chr21:28633333-28633334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36020732	chr21:28633355-28633356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543297961	chr21:28633362-28633363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558971297	chr21:28633414-28633415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182097148	chr21:28633417-28633418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187648231	chr21:28633433-28633434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191389628	chr21:28633466-28633467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16980205	chr21:28633490-28633491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548128255	chr21:28633492-28633493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62221655	chr21:28633512-28633513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142560635	chr21:28633526-28633527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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	21293372	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28618400-28642000	Weak transcription	Ovary	ovary
2	chr21:28621600-28634000	Weak transcription	HSMM	muscle
3	chr21:28631600-28632800	Enhancers	Adipose Nuclei	Adipose
4	chr21:28631600-28633000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:28631800-28632800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:28632800-28633000	Enhancers	Dnd41	blood
7	chr21:28632800-28638200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:28633000-28633400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28633000-28634000	Weak transcription	Dnd41	blood
10	chr21:28633400-28634200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:28634000-28634200	Enhancers	Osteobl	bone
12	chr21:28634000-28634400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr21:28634000-28634800	Enhancers	HSMM	muscle
14	chr21:28634000-28635000	Enhancers	Dnd41	blood
15	chr21:28634200-28638000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:28634800-28640400	Weak transcription	HSMM	muscle
17	chr21:28635000-28636800	Weak transcription	Dnd41	blood
18	chr21:28636800-28639600	Enhancers	Dnd41	blood
19	chr21:28637600-28637800	Enhancers	Colon Smooth Muscle	Colon
20	chr21:28637800-28640600	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:28638000-28638800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:28638000-28638800	Enhancers	Adipose Nuclei	Adipose
23	chr21:28638200-28638800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:28638800-28640200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:28638800-28640200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:28638800-28647800	Weak transcription	Adipose Nuclei	Adipose
27	chr21:28639800-28640200	Active TSS	Brain Hippocampus Middle	brain
28	chr21:28640200-28640400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr21:28640200-28640600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:28640200-28640600	Enhancers	Fetal Kidney	kidney
31	chr21:28640200-28641400	Enhancers	Brain Substantia Nigra	brain
32	chr21:28640200-28641800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:28640200-28642800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:28640200-28642800	Enhancers	NHDF-Ad	bronchial
35	chr21:28640200-28643000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:28640200-28643000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:28640200-28643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:28640200-28643200	Enhancers	Osteobl	bone
39	chr21:28640400-28640600	Enhancers	HMEC	breast
40	chr21:28640400-28641200	Enhancers	Brain Hippocampus Middle	brain
41	chr21:28640400-28641600	Enhancers	Hela-S3	cervix
42	chr21:28640400-28642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr21:28640400-28642800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:28640400-28642800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:28640400-28642800	Enhancers	HSMM	muscle
46	chr21:28640400-28642800	Enhancers	NH-A	brain
47	chr21:28640600-28641600	Enhancers	Colon Smooth Muscle	Colon
48	chr21:28640600-28641600	Weak transcription	HMEC	breast
49	chr21:28640600-28641800	Weak transcription	Fetal Kidney	kidney
50	chr21:28640600-28642400	Enhancers	HUES48 Cell Line	embryonic stem cell

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