Variant report

Variant	rs242352
Chromosome Location	chr21:28960535-28960536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1379664	0.94[ASN][1000 genomes]
rs1457923	0.87[ASN][1000 genomes]
rs1457924	0.91[ASN][1000 genomes]
rs1598853	0.89[ASN][1000 genomes]
rs242342	0.88[ASN][1000 genomes]
rs2831019	0.93[ASN][1000 genomes]
rs2898112	0.91[ASN][1000 genomes]
rs363984	0.91[ASN][1000 genomes]
rs376723	0.90[ASN][1000 genomes]
rs413522	0.91[ASN][1000 genomes]
rs417060	0.88[ASN][1000 genomes]
rs4519610	1.00[ASN][1000 genomes]
rs453417	0.90[ASN][1000 genomes]
rs57426425	0.90[ASN][1000 genomes]
rs7280261	1.00[ASN][1000 genomes]
rs847531	0.89[ASN][1000 genomes]
rs915822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9305318	0.93[ASN][1000 genomes]
rs9305320	0.93[ASN][1000 genomes]
rs9975163	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3339608	chr21:28959631-28960779	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28952400-28962200	Weak transcription	HSMM	muscle
2	chr21:28955400-28962600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:28956400-28962600	Weak transcription	Psoas Muscle	Psoas
4	chr21:28957200-28962200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28957200-28962600	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:28959600-28962000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28959800-28960800	Weak transcription	NHDF-Ad	bronchial
8	chr21:28959800-28960800	Weak transcription	Osteobl	bone
9	chr21:28959800-28961800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:28959800-28962000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:28960000-28962000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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