Variant report

Variant	esv3390433
Chromosome Location	chr21:17731106-17733654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP25-8	chr21:17733108-17733186	ucscGeneNc_uc002ykg_1

Extended variants
information (count: 161 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530509249	chr21:17731238-17731239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550204767	chr21:17731295-17731296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140247606	chr21:17731302-17731303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112717891	chr21:17731308-17731309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188860835	chr21:17731310-17731311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565197909	chr21:17731358-17731359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534807001	chr21:17731400-17731401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs137974376	chr21:17731405-17731406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570113369	chr21:17731407-17731408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181194698	chr21:17731415-17731416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549183849	chr21:17731500-17731501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57483987	chr21:17731506-17731507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574295458	chr21:17731511-17731512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149067061	chr21:17731573-17731574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539352128	chr21:17731586-17731587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576400156	chr21:17731603-17731604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545508132	chr21:17731656-17731657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73368241	chr21:17731661-17731662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114293912	chr21:17731709-17731710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75224896	chr21:17731774-17731775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77180941	chr21:17731821-17731822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528461154	chr21:17731834-17731835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114434866	chr21:17731835-17731836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186239490	chr21:17731837-17731838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550468219	chr21:17731896-17731897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564000890	chr21:17731897-17731898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532523030	chr21:17731900-17731901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552330603	chr21:17731910-17731911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571606443	chr21:17731912-17731913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557246453	chr21:17731921-17731922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566160588	chr21:17731923-17731924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13052969	chr21:17731939-17731940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566567400	chr21:17731954-17731955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183324175	chr21:17731978-17731979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187423325	chr21:17731984-17731985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191928664	chr21:17731993-17731994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375668804	chr21:17732041-17732042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111736573	chr21:17732079-17732080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367882399	chr21:17732096-17732097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200008433	chr21:17732101-17732102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57092316	chr21:17732185-17732186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56932795	chr21:17732199-17732200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59293322	chr21:17732222-17732223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60045517	chr21:17732224-17732225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200157621	chr21:17732235-17732236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370247039	chr21:17732237-17732238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374092943	chr21:17732240-17732241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58349824	chr21:17732243-17732244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373943780	chr21:17732246-17732247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534762380	chr21:17732252-17732253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17724400-17731600	Weak transcription	Fetal Stomach	stomach
2	chr21:17725200-17735400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:17729400-17732600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:17730800-17733800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:17731200-17731600	Enhancers	Fetal Brain Female	brain
6	chr21:17732800-17733400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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