Variant report

Variant	esv1006855
Chromosome Location	chr21:28770414-28770948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-1	chr21:28770799-28770884	ENSG00000231236.2

Extended variants
information (count: 22 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536831010	chr21:28770436-28770437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148174460	chr21:28770487-28770488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78512414	chr21:28770514-28770515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16980481	chr21:28770556-28770557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2830907	chr21:28770608-28770609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs150515595	chr21:28770627-28770628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575309220	chr21:28770636-28770637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182250694	chr21:28770661-28770662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561221271	chr21:28770691-28770692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529973002	chr21:28770702-28770703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540387594	chr21:28770725-28770726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2000760	chr21:28770805-28770806	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528539063	chr21:28770808-28770809	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs139438461	chr21:28770809-28770810	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs571444694	chr21:28770837-28770838	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs73385404	chr21:28770864-28770865	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs376207436	chr21:28770867-28770868	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs370972676	chr21:28770871-28770872	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs550587639	chr21:28770896-28770897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367653813	chr21:28770897-28770898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146226216	chr21:28770904-28770905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573390020	chr21:28770914-28770915	Weak transcription	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28767800-28772200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr21:28767800-28772400	Weak transcription	Osteobl	bone

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