Variant report

Variant	esv3431471
Chromosome Location	chr21:28347706-28349729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568081246	chr21:28347722-28347723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200464278	chr21:28347723-28347724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183799444	chr21:28347765-28347766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548932168	chr21:28347778-28347779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553554446	chr21:28347807-28347808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570361229	chr21:28347824-28347825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369934973	chr21:28347850-28347851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149253025	chr21:28347870-28347871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189256148	chr21:28347895-28347896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76439089	chr21:28347921-28347922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554914015	chr21:28347937-28347938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574845509	chr21:28347973-28347974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74827612	chr21:28347976-28347977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560563269	chr21:28347994-28347995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528733132	chr21:28348003-28348004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112052754	chr21:28348008-28348009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546402869	chr21:28348045-28348046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372988666	chr21:28348051-28348052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1497290	chr21:28348083-28348084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs531999708	chr21:28348111-28348112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547889830	chr21:28348125-28348126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568005450	chr21:28348128-28348129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542812136	chr21:28348130-28348131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112892935	chr21:28348141-28348142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9647124	chr21:28348205-28348206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs111437946	chr21:28348223-28348224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539277405	chr21:28348234-28348235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555911542	chr21:28348238-28348239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557916509	chr21:28348294-28348295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182175507	chr21:28348321-28348322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77240973	chr21:28348358-28348359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533203890	chr21:28348407-28348408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370672234	chr21:28348408-28348409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71183591	chr21:28348431-28348432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143367341	chr21:28348433-28348434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28420934	chr21:28348435-28348436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60540622	chr21:28348436-28348437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112337045	chr21:28348469-28348470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373822603	chr21:28348470-28348471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554665635	chr21:28348473-28348474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28374925	chr21:28348480-28348481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140378022	chr21:28348484-28348485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71333105	chr21:28348492-28348493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549798954	chr21:28348511-28348512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185157958	chr21:28348513-28348514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28427212	chr21:28348516-28348517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202122532	chr21:28348523-28348524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28652926	chr21:28348525-28348526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71183592	chr21:28348537-28348538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553228951	chr21:28348544-28348545	Weak transcription	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28340400-28349600	Weak transcription	HSMM	muscle
2	chr21:28346000-28349800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:28346200-28349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:28346200-28359400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:28346400-28349600	Weak transcription	Osteobl	bone
6	chr21:28346400-28349800	Weak transcription	NHDF-Ad	bronchial
7	chr21:28346800-28349600	Weak transcription	Ovary	ovary
8	chr21:28349600-28350000	Enhancers	HSMM	muscle
9	chr21:28349600-28350200	Enhancers	Ovary	ovary
10	chr21:28349600-28350600	Enhancers	Osteobl	bone

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