Variant report

Variant	rs9975163
Chromosome Location	chr21:28962313-28962314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1379664	0.89[ASN][1000 genomes]
rs1457923	0.90[ASN][1000 genomes]
rs1457924	0.93[ASN][1000 genomes]
rs1598853	0.87[ASN][1000 genomes]
rs242342	0.87[ASN][1000 genomes]
rs242352	0.93[ASN][1000 genomes]
rs2831019	0.96[ASN][1000 genomes]
rs2898112	0.95[ASN][1000 genomes]
rs363984	0.89[ASN][1000 genomes]
rs376723	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs413522	0.89[ASN][1000 genomes]
rs417060	0.87[ASN][1000 genomes]
rs4519610	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs453417	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57426425	0.90[ASN][1000 genomes]
rs7280261	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs847531	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs915822	0.97[ASN][1000 genomes]
rs9305318	0.93[ASN][1000 genomes]
rs9305320	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv834071	chr21:28806911-28988880	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv913669	chr21:28932087-28981553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28955400-28962600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr21:28956400-28962600	Weak transcription	Psoas Muscle	Psoas
3	chr21:28957200-28962600	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:28961400-28963800	Enhancers	Osteobl	bone
5	chr21:28962000-28962400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:28962000-28962400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:28962000-28962800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:28962200-28962400	Flanking Active TSS	NHDF-Ad	bronchial
9	chr21:28962200-28962800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr21:28962200-28962800	Active TSS	HSMMtube	muscle
11	chr21:28962200-28963400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:28962200-28963800	Enhancers	HSMM	muscle

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