Variant report

Variant	esv3410463
Chromosome Location	chr21:17564033-17564502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114376526	chr21:17564092-17564093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147967984	chr21:17564101-17564102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570933057	chr21:17564152-17564153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529358765	chr21:17564157-17564158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527317453	chr21:17564186-17564187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547454702	chr21:17564213-17564214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192060968	chr21:17564236-17564237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549414460	chr21:17564256-17564257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535996675	chr21:17564266-17564267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184408108	chr21:17564280-17564281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569536732	chr21:17564413-17564414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190481658	chr21:17564414-17564415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs238954	chr21:17564415-17564416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139232387	chr21:17564419-17564420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375047516	chr21:17564442-17564443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182215841	chr21:17564453-17564454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2823633	chr21:17564475-17564476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184397734	chr21:17564486-17564487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17553400-17566400	Weak transcription	Fetal Stomach	stomach
2	chr21:17558400-17566400	Weak transcription	Brain Anterior Caudate	brain
3	chr21:17559000-17571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:17559600-17566200	Weak transcription	Ovary	ovary
5	chr21:17559600-17566600	Weak transcription	Placenta	Placenta
6	chr21:17563000-17565400	Weak transcription	NHDF-Ad	bronchial
7	chr21:17563400-17565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:17563600-17567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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