Variant report

Variant	esv3392521
Chromosome Location	chr21:17820949-17821141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144652342	chr21:17820960-17820961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs67914010	chr21:17820974-17820975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192835270	chr21:17820985-17820986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192503478	chr21:17820986-17820987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150350696	chr21:17820994-17820995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370351208	chr21:17820995-17820996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551439795	chr21:17821005-17821006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147477524	chr21:17821012-17821013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562121765	chr21:17821030-17821031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533538766	chr21:17821032-17821033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373671238	chr21:17821033-17821034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201249228	chr21:17821048-17821049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201894304	chr21:17821050-17821051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113593687	chr21:17821052-17821053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369698863	chr21:17821062-17821063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202205251	chr21:17821076-17821077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76150359	chr21:17821078-17821079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140028826	chr21:17821079-17821080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376676551	chr21:17821080-17821081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371541556	chr21:17821089-17821090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143313219	chr21:17821091-17821092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373300806	chr21:17821092-17821093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369077626	chr21:17821093-17821094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375698970	chr21:17821095-17821096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113734876	chr21:17821097-17821098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17804200-17826200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:17809600-17828200	Weak transcription	Left Ventricle	heart
3	chr21:17813600-17826200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr21:17814400-17826400	Weak transcription	Fetal Brain Male	brain
5	chr21:17814600-17828400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:17814800-17822800	Weak transcription	Hela-S3	cervix
7	chr21:17820200-17822400	Weak transcription	Fetal Heart	heart

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