Variant report

Variant	esv3522076
Chromosome Location	chr21:41216937-41217207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41208734..41211279-chr21:41216423..41218516,2	K562	blood:
2	chr21:41214087..41216615-chr21:41216741..41221047,4	MCF-7	breast:
3	chr21:41217185..41219061-chr21:41222120..41225163,3	MCF-7	breast:
4	chr21:41215857..41218519-chr21:41265532..41267969,2	MCF-7	breast:
5	chr21:41216229..41218575-chr21:41247366..41250074,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115947975	chr21:41216937-41216938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537084297	chr21:41216954-41216955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73221269	chr21:41216978-41216979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570156082	chr21:41216988-41216989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576573676	chr21:41216995-41216996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59997683	chr21:41217021-41217022	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111903970	chr21:41217041-41217042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573007836	chr21:41217108-41217109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367567296	chr21:41217109-41217110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541732111	chr21:41217123-41217124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562046646	chr21:41217135-41217136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371672943	chr21:41217149-41217150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117874629	chr21:41217150-41217151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59022163	chr21:41217156-41217157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543881667	chr21:41217160-41217161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9979170	chr21:41217173-41217174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189585685	chr21:41217186-41217187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552715330	chr21:41217188-41217189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559657919	chr21:41217202-41217203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376847768	chr21:41217207-41217208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
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
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
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41199000-41219800	Weak transcription	Pancreas	Pancrea
2	chr21:41213200-41217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:41213400-41222800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:41213600-41223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:41216800-41217400	Enhancers	NH-A	brain
6	chr21:41217000-41217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:41217000-41217400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:41217000-41218000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr21:41217200-41217800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:41217200-41218400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:41217200-41218400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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