Variant report

Variant	rs57108975
Chromosome Location	chr5:60422511-60422512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10452451	0.83[AFR][1000 genomes]
rs16878535	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878537	1.00[AMR][1000 genomes]
rs16878539	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878544	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647074	1.00[AMR][1000 genomes]
rs4647116	1.00[AMR][1000 genomes]
rs55638584	1.00[AMR][1000 genomes]
rs55659107	1.00[AMR][1000 genomes]
rs56020025	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043434	1.00[AMR][1000 genomes]
rs56071223	1.00[AMR][1000 genomes]
rs56113732	1.00[AMR][1000 genomes]
rs56132498	0.80[AFR][1000 genomes]
rs56256328	1.00[AMR][1000 genomes]
rs56287212	1.00[AMR][1000 genomes]
rs56306823	1.00[AMR][1000 genomes]
rs56320246	1.00[AMR][1000 genomes]
rs56386934	1.00[AMR][1000 genomes]
rs57366470	1.00[AMR][1000 genomes]
rs58096884	0.83[AFR][1000 genomes]
rs58859855	1.00[AFR][1000 genomes]
rs59453232	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60239490	1.00[AMR][1000 genomes]
rs60328915	0.94[AFR][1000 genomes]
rs6449516	1.00[AMR][1000 genomes]
rs6869855	1.00[AMR][1000 genomes]
rs6870631	1.00[AMR][1000 genomes]
rs6885974	1.00[AMR][1000 genomes]
rs73759435	1.00[AMR][1000 genomes]
rs73759437	1.00[AMR][1000 genomes]
rs73759441	1.00[AMR][1000 genomes]
rs73759445	1.00[AMR][1000 genomes]
rs73759446	1.00[AMR][1000 genomes]
rs73759447	1.00[AMR][1000 genomes]
rs73759450	1.00[AMR][1000 genomes]
rs73759452	1.00[AMR][1000 genomes]
rs73759454	1.00[AMR][1000 genomes]
rs73759455	1.00[AMR][1000 genomes]
rs73759456	1.00[AMR][1000 genomes]
rs73759457	1.00[AMR][1000 genomes]
rs73759458	1.00[AMR][1000 genomes]
rs73759459	1.00[AMR][1000 genomes]
rs73759461	1.00[AMR][1000 genomes]
rs73759468	1.00[AMR][1000 genomes]
rs73759469	1.00[AMR][1000 genomes]
rs73759470	1.00[AMR][1000 genomes]
rs73759471	1.00[AMR][1000 genomes]
rs73759475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759487	0.94[AFR][1000 genomes]
rs7701959	1.00[AMR][1000 genomes]
rs7717284	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60395400-60428200	Weak transcription	HSMMtube	muscle
2	chr5:60398800-60453800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:60417200-60449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:60420000-60423200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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