Variant report

Variant	rs12714565
Chromosome Location	chr3:83509146-83509147
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1020614	0.91[EUR][1000 genomes]
rs1020615	0.91[EUR][1000 genomes]
rs1020616	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12714566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13061386	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1452167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1452179	0.91[EUR][1000 genomes]
rs1452180	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1551232	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs164273	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2198281	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28859986	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28893195	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs398555	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67529822	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67764414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs700013	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7648751	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9811230	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9811656	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9812521	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9842201	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9865924	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9867218	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9869072	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9878614	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9882209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv998408	chr3:83057096-83549271	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536609	chr3:83057096-83549271	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv877071	chr3:83324183-83536528	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1006081	chr3:83421626-84262106	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1002964	chr3:83478168-83516136	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1013465	chr3:83484576-83575729	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83507000-83509400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:83507200-83509600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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