Variant report

Variant	esv2436483
Chromosome Location	chr21:28920379-28921994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-5	chr21:28920778-28920797	NONHSAT081570
2	lnc-ADAMTS5-5	chr21:28920774-28920917	l_2188_chr21:28733501-28920917_placenta
3	lnc-ADAMTS5-5	chr21:28920778-28920869	NONHSAT081571

Extended variants
information (count: 50 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555972161	chr21:28920389-28920390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576129340	chr21:28920500-28920501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8131454	chr21:28920509-28920510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561728508	chr21:28920566-28920567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144578108	chr21:28920594-28920595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181718675	chr21:28920631-28920632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564399503	chr21:28920647-28920648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533146006	chr21:28920667-28920668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567933422	chr21:28920741-28920742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138606234	chr21:28920764-28920765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140263746	chr21:28920839-28920840	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs531833670	chr21:28920863-28920864	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs548246354	chr21:28920920-28920921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568133228	chr21:28920928-28920929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376360792	chr21:28920934-28920935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554024816	chr21:28920951-28920952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530527731	chr21:28920969-28920970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570846375	chr21:28921004-28921005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148017708	chr21:28921034-28921035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539636007	chr21:28921091-28921092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145465777	chr21:28921109-28921110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148045337	chr21:28921112-28921113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541919027	chr21:28921125-28921126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185883272	chr21:28921183-28921184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189950160	chr21:28921195-28921196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541061657	chr21:28921230-28921231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369178874	chr21:28921272-28921273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564362357	chr21:28921307-28921308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs242330	chr21:28921317-28921318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75519096	chr21:28921326-28921327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563506042	chr21:28921344-28921345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182583451	chr21:28921380-28921381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535588087	chr21:28921405-28921406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548686407	chr21:28921551-28921552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75117768	chr21:28921606-28921607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527666582	chr21:28921631-28921632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79682403	chr21:28921679-28921680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs768832	chr21:28921690-28921691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540128639	chr21:28921699-28921700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141734699	chr21:28921708-28921709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184969009	chr21:28921716-28921717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116098665	chr21:28921762-28921763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539478714	chr21:28921793-28921794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190718663	chr21:28921795-28921796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558170361	chr21:28921819-28921820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572210802	chr21:28921830-28921831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376283285	chr21:28921852-28921853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73901260	chr21:28921901-28921902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557787590	chr21:28921949-28921950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537764610	chr21:28921970-28921971	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
Gastric cancer	18160780	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:10 , 50 per page) page: 1

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	chr21:28920200-28920600	Weak transcription	Fetal Lung	lung
4	chr21:28920600-28921000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:28920600-28923600	Enhancers	Fetal Lung	lung
6	chr21:28920800-28921000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr21:28920800-28921200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:28921000-28922400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:28921200-28923000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:28921800-28922000	Enhancers	Fetal Heart	heart

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