Variant report

Variant	rs59130415
Chromosome Location	chr4:62449129-62449130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2088113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55636236	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55773246	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55939610	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56338474	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60655392	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73822609	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73822610	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73822617	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73822619	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73822621	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73822622	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73822651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73822652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73822654	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73822688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73822690	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73822691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73822692	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73822695	0.84[AMR][1000 genomes]
rs73825906	0.80[AMR][1000 genomes]
rs73825907	0.84[AMR][1000 genomes]
rs7660587	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9917973	0.83[EUR][1000 genomes]
rs9918049	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1004815	chr4:62398737-62553769	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537110	chr4:62398737-62553769	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv594329	chr4:62416593-62478230	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv879077	chr4:62419426-62545435	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS	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	chr4:62446400-62462200	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:62447000-62449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:62447000-62449400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:62449000-62449400	Enhancers	HMEC	breast
5	chr4:62449000-62450000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:62449000-62450200	Enhancers	NHEK	skin

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