Variant report

Variant	rs4615070
Chromosome Location	chr3:54012886-54012887
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:21)

rs_ID	r²[population]
rs11130387	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11130389	0.86[EUR][1000 genomes]
rs11707607	0.87[EUR][1000 genomes]
rs13324796	1.00[ASN][1000 genomes]
rs34724920	1.00[ASN][1000 genomes]
rs35514975	0.81[EUR][1000 genomes]
rs4583644	1.00[ASN][1000 genomes]
rs4632536	0.84[EUR][1000 genomes]
rs4687598	1.00[ASN][1000 genomes]
rs4687765	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4687766	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6445621	0.91[EUR][1000 genomes]
rs6774578	0.86[EUR][1000 genomes]
rs7617627	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7638646	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9812982	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9817109	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834207	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9834529	0.97[ASN][1000 genomes]
rs9876538	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9876934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1005411	chr3:53927782-54158638	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv523473	chr3:54010039-54033865	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	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	chr3:54011000-54014200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:54012200-54013000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:54012400-54013000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:54012400-54013000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:54012400-54013000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:54012400-54013000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:54012600-54013000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:54012600-54013000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:54012600-54013200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:54012800-54013000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:54012800-54016000	Weak transcription	Placenta Amnion	Placenta Amnion

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