Variant report

Variant	rs61948967
Chromosome Location	chr12:86588073-86588074
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12304593	0.81[AMR][1000 genomes]
rs12305255	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12306726	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12316480	0.81[AMR][1000 genomes]
rs1389296	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17284129	0.82[AMR][1000 genomes]
rs17284624	0.82[AMR][1000 genomes]
rs17284820	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17357025	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17359446	0.86[AMR][1000 genomes]
rs4586245	0.82[AMR][1000 genomes]
rs4842541	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55649116	0.81[AMR][1000 genomes]
rs55733909	0.81[AMR][1000 genomes]
rs55832610	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55886852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55998036	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56154427	0.82[AMR][1000 genomes]
rs57624840	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58024273	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59623111	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61931157	0.82[AMR][1000 genomes]
rs61932264	0.82[AMR][1000 genomes]
rs61932265	0.82[AMR][1000 genomes]
rs61932266	0.82[AMR][1000 genomes]
rs61932268	0.82[AMR][1000 genomes]
rs61932269	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61932270	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61932271	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61932272	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61932274	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61932275	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61948994	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949011	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61949013	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949036	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949037	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949038	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61949039	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61949041	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61949045	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61949047	0.83[AMR][1000 genomes]
rs61949048	0.81[AMR][1000 genomes]
rs61949049	0.81[AMR][1000 genomes]
rs61950663	0.81[AMR][1000 genomes]
rs61950665	0.81[AMR][1000 genomes]
rs7487426	0.82[AMR][1000 genomes]
rs767898	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv800	chr12:86572379-86617887	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86587400-86588400	Enhancers	HUVEC	blood vessel
2	chr12:86587600-86588200	Enhancers	NHEK	skin
3	chr12:86587600-86588800	Enhancers	Hela-S3	cervix
4	chr12:86588000-86588400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr12:86588000-86588400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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