Variant report

Variant	rs62216072
Chromosome Location	chr21:47043117-47043118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47035323..47036997-chr21:47041582..47043286,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1029014	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12151963	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12381207	1.00[ASN][1000 genomes]
rs12483018	0.82[EUR][1000 genomes]
rs12483701	0.85[ASN][1000 genomes]
rs1467758	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17004799	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1964928	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1989537	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2150460	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2183595	0.81[ASN][1000 genomes]
rs2183596	0.81[ASN][1000 genomes]
rs2183601	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838973	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838974	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838976	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838978	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838981	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838982	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838983	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838985	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838988	0.85[ASN][1000 genomes]
rs2838990	0.81[ASN][1000 genomes]
rs2838991	0.81[ASN][1000 genomes]
rs2838992	0.81[ASN][1000 genomes]
rs2838993	0.81[ASN][1000 genomes]
rs28625750	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3367	0.81[ASN][1000 genomes]
rs3920695	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4347938	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4434082	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4818795	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4818797	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4819134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819144	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55912508	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55923134	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55957843	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56213918	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56288252	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56300316	0.85[ASN][1000 genomes]
rs56323347	0.81[ASN][1000 genomes]
rs57057834	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57282159	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57328058	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57501220	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57990579	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58925015	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60604183	0.81[ASN][1000 genomes]
rs60988006	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61329313	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61540945	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62213277	0.83[ASN][1000 genomes]
rs62215031	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62215035	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62215040	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62215047	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62215048	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62216073	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67222545	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67565220	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs725358	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7279909	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7280055	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7280560	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7283803	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7410008	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs744506	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs767137	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8133966	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs914241	0.81[ASN][1000 genomes]
rs9306139	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9637169	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9647229	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9647230	0.81[ASN][1000 genomes]
rs9974491	0.81[ASN][1000 genomes]
rs9976200	0.85[ASN][1000 genomes]
rs9976878	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9978078	0.81[ASN][1000 genomes]
rs9978158	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9978882	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9981586	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
5	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
6	nsv914066	chr21:46912386-47053962	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv834112	chr21:46922151-47048253	Strong transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
9	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
10	nsv914077	chr21:46998548-47091361	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
11	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
12	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62216072	PCBP3	cis	lung	GTEx
rs62216072	PCBP3	cis	Muscle Skeletal	GTEx
rs62216072	PCBP3	cis	Nerve Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47035800-47043800	Enhancers	Fetal Thymus	thymus
2	chr21:47041800-47048800	Weak transcription	Thymus	Thymus
3	chr21:47042400-47043600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:47042800-47049000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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