Variant report

Variant	nsv587346
Chromosome Location	chr21:28921690-28942922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:
2	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:
3	chr21:28222364..28222967-chr21:28936673..28937273,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-6	chr21:28934419-28934869	NONHSAT081575
2	lnc-ADAMTS5-6	chr21:28942518-28942696	NONHSAT081575

Extended variants
information (count: 818 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs768832	chr21:28921690-28921691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540128639	chr21:28921699-28921700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141734699	chr21:28921708-28921709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184969009	chr21:28921716-28921717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116098665	chr21:28921762-28921763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539478714	chr21:28921793-28921794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190718663	chr21:28921795-28921796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558170361	chr21:28921819-28921820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572210802	chr21:28921830-28921831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376283285	chr21:28921852-28921853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73901260	chr21:28921901-28921902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557787590	chr21:28921949-28921950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537764610	chr21:28921970-28921971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576722472	chr21:28922071-28922072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368518976	chr21:28922145-28922146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183009810	chr21:28922196-28922197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563312275	chr21:28922225-28922226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539389087	chr21:28922233-28922234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573759918	chr21:28922246-28922247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188758836	chr21:28922258-28922259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561839881	chr21:28922312-28922313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369526012	chr21:28922360-28922361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201470877	chr21:28922371-28922372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527828145	chr21:28922373-28922374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193255165	chr21:28922385-28922386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550699409	chr21:28922404-28922405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564149805	chr21:28922406-28922407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533426030	chr21:28922445-28922446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373729796	chr21:28922449-28922450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570522284	chr21:28922464-28922465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570287203	chr21:28922472-28922473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536038311	chr21:28922474-28922475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549643996	chr21:28922502-28922503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556049369	chr21:28922525-28922526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565730942	chr21:28922534-28922535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115637000	chr21:28922541-28922542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79267224	chr21:28922575-28922576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182879068	chr21:28922592-28922593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2830996	chr21:28922620-28922621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187555892	chr21:28922667-28922668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560036945	chr21:28922679-28922680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79986230	chr21:28922711-28922712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191674319	chr21:28922759-28922760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2830997	chr21:28922769-28922770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544352843	chr21:28922843-28922844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184068164	chr21:28922939-28922940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572167208	chr21:28922954-28922955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368849428	chr21:28923020-28923021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373273265	chr21:28923089-28923090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564296228	chr21:28923155-28923156	Enhancers 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
Gastric cancer	18160780	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28918600-28927800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:28919400-28921800	Weak transcription	Fetal Heart	heart
3	chr21:28920600-28923600	Enhancers	Fetal Lung	lung
4	chr21:28921000-28922400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:28921200-28923000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:28921800-28922000	Enhancers	Fetal Heart	heart
7	chr21:28922000-28922400	Weak transcription	Fetal Heart	heart
8	chr21:28922400-28923800	Enhancers	Fetal Heart	heart
9	chr21:28922600-28922800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr21:28922600-28923000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:28923000-28923200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:28927800-28928400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:28928000-28929400	Weak transcription	Fetal Heart	heart
14	chr21:28928400-28937600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:28929400-28930200	Enhancers	Fetal Heart	heart
16	chr21:28929600-28929800	Enhancers	NHLF	lung
17	chr21:28929800-28937400	Weak transcription	NHLF	lung
18	chr21:28930000-28930200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:28930200-28930400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:28930400-28931000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:28932000-28932400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr21:28933400-28934000	Enhancers	NHEK	skin
23	chr21:28933600-28934000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:28933600-28934000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr21:28933600-28934000	Enhancers	Ovary	ovary
26	chr21:28933600-28934000	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr21:28933800-28934200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr21:28933800-28934600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:28934000-28937200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:28934000-28937200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:28934000-28937200	Weak transcription	Fetal Lung	lung
32	chr21:28934000-28937800	Weak transcription	NHEK	skin
33	chr21:28934000-28941800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr21:28934200-28938800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr21:28934600-28941200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:28936200-28938000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:28936600-28939200	Enhancers	Osteobl	bone
38	chr21:28937200-28937600	Enhancers	Fetal Lung	lung
39	chr21:28937200-28938000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:28937200-28938000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:28937200-28938000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr21:28937200-28938000	Enhancers	HSMMtube	muscle
43	chr21:28937200-28938200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr21:28937200-28938600	Enhancers	NHDF-Ad	bronchial
45	chr21:28937400-28938000	Enhancers	NHLF	lung
46	chr21:28937600-28938000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:28937600-28942200	Weak transcription	Fetal Lung	lung
48	chr21:28937800-28938000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:28937800-28938000	Enhancers	HSMM	muscle
50	chr21:28937800-28938200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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