Variant report

Variant	rs2156292
Chromosome Location	chr21:28649962-28649963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1034355	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1038023	0.80[ASN][1000 genomes]
rs151452	0.93[ASN][1000 genomes]
rs235927	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs235928	0.90[ASN][1000 genomes]
rs235929	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs235930	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs235931	0.90[ASN][1000 genomes]
rs235932	0.93[ASN][1000 genomes]
rs235933	0.93[ASN][1000 genomes]
rs235934	0.93[ASN][1000 genomes]
rs237045	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs237046	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs237047	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs237048	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830825	0.85[EUR][1000 genomes]
rs2830832	0.80[ASN][1000 genomes]
rs28555426	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs464652	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs847700	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv834070	chr21:28546745-28709950	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv587344	chr21:28631839-28659396	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv587345	chr21:28631839-28663985	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv913662	chr21:28632360-28702427	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv913663	chr21:28635971-28670180	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv913664	chr21:28643868-28664865	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2156292	MRPL39	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28645200-28650400	Enhancers	Dnd41	blood
2	chr21:28647000-28650200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr21:28647000-28650200	Enhancers	Osteobl	bone
4	chr21:28647800-28650200	Enhancers	Hela-S3	cervix
5	chr21:28647800-28650200	Enhancers	NHDF-Ad	bronchial
6	chr21:28647800-28650200	Enhancers	NHLF	lung
7	chr21:28647800-28650400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:28648200-28650000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr21:28649200-28650200	Enhancers	Fetal Lung	lung
10	chr21:28649200-28650400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:28649200-28650400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:28649200-28651400	Enhancers	Ovary	ovary
13	chr21:28649400-28650000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:28649800-28650200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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