Variant report

Variant	rs28391783
Chromosome Location	chr21:40018020-40018021
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16996658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2836585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2836586	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2836587	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2836588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2836590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2836591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2836592	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2836595	0.80[AFR][1000 genomes]
rs2836596	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065541	chr21:40009959-40024976	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1057719	chr21:40009959-40025433	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1058663	chr21:40009959-40031681	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1055287	chr21:40013735-40031681	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40016000-40018200	Weak transcription	Aorta	Aorta
2	chr21:40016000-40018800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:40016000-40027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40016200-40024000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:40016800-40018200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:40016800-40018200	Enhancers	Osteobl	bone
7	chr21:40016800-40018600	Enhancers	HMEC	breast
8	chr21:40017000-40018600	Enhancers	HSMM	muscle
9	chr21:40017000-40018600	Enhancers	NH-A	brain
10	chr21:40017000-40019200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:40017200-40019000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:40017200-40019200	Enhancers	HSMMtube	muscle
13	chr21:40017200-40020000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:40017400-40018400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr21:40017600-40018600	Flanking Active TSS	NHEK	skin
16	chr21:40017600-40018800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:40017600-40019000	Enhancers	NHDF-Ad	bronchial
18	chr21:40017600-40019000	Enhancers	NHLF	lung
19	chr21:40017800-40018200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:40017800-40018200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:40017800-40018200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:40018000-40018400	Enhancers	Muscle Satellite Cultured Cells	--

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