Variant report

Variant	esv16011
Chromosome Location	chr21:28476934-28477619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148409777	chr21:28476937-28476938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142494425	chr21:28476974-28476975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563270797	chr21:28476980-28476981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554581476	chr21:28476985-28476986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573822726	chr21:28476993-28476994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550533763	chr21:28476995-28476996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75799637	chr21:28477005-28477006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117319808	chr21:28477010-28477011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528248228	chr21:28477025-28477026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4817154	chr21:28477085-28477086	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4817155	chr21:28477150-28477151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1236212	chr21:28477174-28477175	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs34051121	chr21:28477297-28477298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549802535	chr21:28477354-28477355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75669121	chr21:28477401-28477402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111356333	chr21:28477416-28477417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140753254	chr21:28477427-28477428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549036001	chr21:28477445-28477446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566277457	chr21:28477545-28477546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182709145	chr21:28477553-28477554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111805614	chr21:28477574-28477575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2027706	chr21:28477578-28477579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73363648	chr21:28477614-28477615	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
2	chr21:28472000-28477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:28474600-28477200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:28474600-28477200	Weak transcription	NHDF-Ad	bronchial
5	chr21:28475400-28477200	Weak transcription	Adipose Nuclei	Adipose
6	chr21:28475600-28477400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28476000-28477600	Enhancers	Hela-S3	cervix
8	chr21:28476200-28477400	Weak transcription	Ovary	ovary
9	chr21:28476600-28477000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:28476800-28477600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:28477000-28478000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr21:28477000-28478200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr21:28477200-28478000	Enhancers	HSMMtube	muscle
14	chr21:28477200-28478200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:28477200-28478200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:28477200-28478200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr21:28477200-28478200	Enhancers	NHDF-Ad	bronchial
18	chr21:28477200-28478400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr21:28477200-28478400	Enhancers	Adipose Nuclei	Adipose
20	chr21:28477200-28479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:28477400-28477800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr21:28477400-28478000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:28477400-28478000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:28477400-28478200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:28477400-28478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:28477400-28478200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr21:28477400-28478200	Enhancers	Ovary	ovary
28	chr21:28477600-28477800	Flanking Active TSS	Hela-S3	cervix
29	chr21:28477600-28478000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:28477600-28478000	Enhancers	NHEK	skin
31	chr21:28477600-28478800	Enhancers	Fetal Kidney	kidney
32	chr21:28477600-28479000	Enhancers	Osteobl	bone

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