Variant report

Variant	rs3945438
Chromosome Location	chr21:47110517-47110518
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11908836	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs11911348	0.90[CHB][hapmap]
rs2015400	0.80[JPT][hapmap]
rs2330328	0.81[CHB][hapmap]
rs2838970	0.91[ASN][1000 genomes]
rs2838971	0.90[ASN][1000 genomes]
rs2838975	0.96[CEU][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2838977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs2839008	0.88[CHD][hapmap]
rs2839023	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs2839024	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs2839025	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs2877078	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4819133	0.91[ASN][1000 genomes]
rs4819137	0.91[ASN][1000 genomes]
rs4819138	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs725930	0.90[CHB][hapmap]
rs7276178	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7278258	0.81[CEU][hapmap];0.91[CHB][hapmap]
rs7280089	0.90[CHB][hapmap]
rs7282214	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs736063	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7410098	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs741954	0.87[JPT][hapmap]
rs7509868	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs767138	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8128681	0.91[ASN][1000 genomes]
rs8133338	0.90[CHB][hapmap]
rs9653790	0.91[ASN][1000 genomes]
rs9798668	0.81[CHB][hapmap]
rs9977594	0.90[CHB][hapmap]
rs9977706	0.91[ASN][1000 genomes]
rs9978583	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv1063957	chr21:47090475-47168291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv1056995	chr21:47094147-47120504	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv1062702	chr21:47095762-47169369	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	nsv544493	chr21:47095762-47169369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3945438	PCBP3	cis	Artery Tibial	GTEx
rs3945438	TFF1	cis	cerebellum	SCAN
rs3945438	PCBP3	cis	cerebellum	SCAN
rs3945438	PCBP3	cis	Heart Left Ventricle	GTEx
rs3945438	COL6A1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47102600-47138400	Weak transcription	Fetal Thymus	thymus

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