Variant report

Variant	esv3385593
Chromosome Location	chr21:28058415-28058942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 63 )

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	rs533255273	chr21:28058433-28058434	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112456265	chr21:28058477-28058478	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554806399	chr21:28058491-28058492	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574935968	chr21:28058496-28058497	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139243353	chr21:28058506-28058507	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560812201	chr21:28058514-28058515	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532683664	chr21:28058638-28058639	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376561940	chr21:28058765-28058766	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376404189	chr21:28058775-28058776	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531255567	chr21:28058783-28058784	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs9984081	chr21:28058794-28058795	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561635085	chr21:28058796-28058797	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs527431410	chr21:28058806-28058807	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547294635	chr21:28058845-28058846	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149992844	chr21:28058861-28058862	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190440860	chr21:28058875-28058876	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145243971	chr21:28058876-28058877	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547933442	chr21:28058881-28058882	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2830383	chr21:28058892-28058893	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376041957	chr21:28058899-28058900	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28057800-28059000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr21:28058400-28058600	Active TSS	Primary T cells from cord blood	blood
3	chr21:28058400-28058600	Enhancers	Dnd41	blood
4	chr21:28058400-28059000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr21:28058400-28059000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr21:28058600-28058800	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr21:28058600-28058800	Enhancers	HMEC	breast
8	chr21:28058600-28059000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:28058600-28059000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr21:28058600-28059000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:28058600-28059000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr21:28058600-28059000	Flanking Active TSS	Dnd41	blood

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