Variant report

Variant	rs62516479
Chromosome Location	chr8:113475540-113475541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10087242	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10092138	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10106343	0.81[AMR][1000 genomes]
rs10107134	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10108081	0.81[AMR][1000 genomes]
rs10109807	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10111988	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1020597	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10505173	0.81[AMR][1000 genomes]
rs10505174	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10505175	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11779960	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11780166	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11783041	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11787085	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1319683	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13439841	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1388962	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1492675	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1563064	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16883549	0.80[AMR][1000 genomes]
rs16883689	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16883708	0.81[AMR][1000 genomes]
rs16883735	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1907802	0.81[AMR][1000 genomes]
rs2045033	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2123487	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2123489	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2167777	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4363229	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5004568	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62514456	0.80[AMR][1000 genomes]
rs62516467	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62516475	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62516481	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6981814	0.80[AMR][1000 genomes]
rs6986274	0.80[AMR][1000 genomes]
rs7006962	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7018185	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7818544	0.81[AMR][1000 genomes]
rs7820539	0.81[AMR][1000 genomes]
rs7824183	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7832171	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7835735	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7836340	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][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	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2754232	chr8:113294967-113634842	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:113470000-113475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113472600-113475600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:113474400-113475600	Enhancers	Fetal Intestine Small	intestine
4	chr8:113475000-113476000	Enhancers	NHEK	skin
5	chr8:113475000-113476200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:113475200-113476200	Active TSS	A549	lung

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