Variant report

Variant	nsv1066328
Chromosome Location	chr21:28179782-28200710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:28181750..28184261-chr21:28187491..28189634,2	MCF-7	breast:
2	chr21:28181750..28184261-chr21:28187491..28189634,2	MCF-7	breast:
3	chr21:28193660..28195884-chr21:28196743..28198905,2	K562	blood:
4	chr21:28193660..28195884-chr21:28196743..28198905,2	K562	blood:

Extended variants
information (count: 797 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs463433	chr21:28179782-28179783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs461141	chr21:28179802-28179803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535381502	chr21:28179809-28179810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557773149	chr21:28179811-28179812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564069312	chr21:28179813-28179814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574132695	chr21:28179856-28179857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543429120	chr21:28179864-28179865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2952420	chr21:28179873-28179874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563205753	chr21:28179888-28179889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573692547	chr21:28179937-28179938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186097150	chr21:28179944-28179945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77797502	chr21:28179945-28179946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542451937	chr21:28179948-28179949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145821263	chr21:28179955-28179956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11911361	chr21:28179990-28179991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6147461	chr21:28180005-28180006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2952419	chr21:28180039-28180040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551289186	chr21:28180102-28180103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2952418	chr21:28180116-28180117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3017419	chr21:28180156-28180157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2067899	chr21:28180169-28180170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527281538	chr21:28180177-28180178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143833036	chr21:28180194-28180195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116713717	chr21:28180204-28180205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs462457	chr21:28180215-28180216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191934621	chr21:28180219-28180220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142384120	chr21:28180234-28180235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549302452	chr21:28180264-28180265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs137889855	chr21:28180287-28180288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141999834	chr21:28180293-28180294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184233882	chr21:28180350-28180351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578254435	chr21:28180370-28180371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs457982	chr21:28180393-28180394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs458027	chr21:28180444-28180445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573642389	chr21:28180474-28180475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542739957	chr21:28180511-28180512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117771400	chr21:28180543-28180544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572671190	chr21:28180557-28180558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145866263	chr21:28180571-28180572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13046223	chr21:28180572-28180573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530837402	chr21:28180583-28180584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565995147	chr21:28180599-28180600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369106502	chr21:28180604-28180605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs464449	chr21:28180626-28180627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563742926	chr21:28180634-28180635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529354951	chr21:28180640-28180641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376770189	chr21:28180680-28180681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369256578	chr21:28180684-28180685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12481917	chr21:28180744-28180745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528665148	chr21:28180757-28180758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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	19212409	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28170800-28181000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:28174000-28185400	Weak transcription	HSMMtube	muscle
3	chr21:28174600-28187800	Weak transcription	Osteobl	bone
4	chr21:28177800-28186800	Weak transcription	NHLF	lung
5	chr21:28178200-28183000	Weak transcription	Fetal Stomach	stomach
6	chr21:28178200-28185800	Weak transcription	Ovary	ovary
7	chr21:28178800-28179800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:28178800-28179800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr21:28178800-28179800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:28178800-28179800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:28178800-28179800	Enhancers	HMEC	breast
12	chr21:28178800-28179800	Enhancers	NHEK	skin
13	chr21:28178800-28180000	Enhancers	Hela-S3	cervix
14	chr21:28178800-28180200	Enhancers	Dnd41	blood
15	chr21:28179200-28179800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:28179200-28183200	Weak transcription	NHDF-Ad	bronchial
17	chr21:28179400-28180000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28179400-28183000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:28179400-28183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:28179800-28181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:28179800-28181600	Weak transcription	NHEK	skin
22	chr21:28179800-28183200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:28179800-28187800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:28180000-28180400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:28180000-28183000	Weak transcription	Hela-S3	cervix
26	chr21:28180400-28180600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:28180600-28183000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:28181600-28182600	Enhancers	NHEK	skin
29	chr21:28181800-28182000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:28182600-28182800	Enhancers	Fetal Brain Male	brain
31	chr21:28182600-28192200	Weak transcription	NHEK	skin
32	chr21:28183000-28183800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:28183000-28183800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr21:28183000-28183800	Enhancers	Fetal Stomach	stomach
35	chr21:28183000-28184400	Enhancers	Hela-S3	cervix
36	chr21:28183000-28185600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:28183200-28183600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:28183200-28183600	Enhancers	Brain Hippocampus Middle	brain
39	chr21:28183200-28183600	Enhancers	NHDF-Ad	bronchial
40	chr21:28183400-28183800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr21:28183400-28183800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr21:28183400-28183800	Enhancers	Brain Substantia Nigra	brain
43	chr21:28183600-28187600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:28183600-28187600	Weak transcription	NHDF-Ad	bronchial
45	chr21:28183600-28188000	Weak transcription	Brain Hippocampus Middle	brain
46	chr21:28183800-28186400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:28183800-28190200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr21:28184400-28185200	Weak transcription	Hela-S3	cervix
49	chr21:28185200-28188400	Enhancers	Hela-S3	cervix
50	chr21:28185400-28188000	Enhancers	HSMMtube	muscle

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