Variant report

Variant	rs56253801
Chromosome Location	chr5:118145715-118145716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs17144674	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17144719	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17144749	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17144777	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17144807	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17144815	1.00[EUR][1000 genomes]
rs57269254	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57626866	1.00[EUR][1000 genomes]
rs57879671	1.00[EUR][1000 genomes]
rs57935306	1.00[EUR][1000 genomes]
rs58272882	1.00[EUR][1000 genomes]
rs58306431	1.00[EUR][1000 genomes]
rs58511548	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58532063	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58886471	1.00[EUR][1000 genomes]
rs58907676	1.00[EUR][1000 genomes]
rs59816467	1.00[EUR][1000 genomes]
rs59960294	1.00[EUR][1000 genomes]
rs59983556	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59989728	1.00[EUR][1000 genomes]
rs60221161	1.00[EUR][1000 genomes]
rs60372583	0.81[AFR][1000 genomes]
rs61128026	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61196104	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236926	0.89[AFR][1000 genomes]
rs73236928	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236931	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236934	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236952	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236955	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236956	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236981	1.00[EUR][1000 genomes]
rs73239013	1.00[EUR][1000 genomes]
rs73239017	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73239018	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73239038	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73239043	1.00[EUR][1000 genomes]
rs73239050	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73239054	1.00[EUR][1000 genomes]
rs73239061	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73239070	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73239073	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73253504	1.00[EUR][1000 genomes]
rs865396	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:118138000-118146000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118143400-118178200	Weak transcription	Left Ventricle	heart
4	chr5:118144400-118145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:118144800-118149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:118145600-118146000	ZNF genes & repeats	Aorta	Aorta

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