Variant report

Variant	rs1212482
Chromosome Location	chr7:80662618-80662619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1208099	0.83[EUR][1000 genomes]
rs1208100	0.81[EUR][1000 genomes]
rs12707153	0.80[EUR][1000 genomes]
rs1636562	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1729445	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs853074	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs853075	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs853076	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853077	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs853078	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs853079	0.87[EUR][1000 genomes]
rs853080	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs853081	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853082	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs853083	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs853084	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs853088	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs853089	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853090	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853091	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs853093	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs853094	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs853095	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs853096	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs853097	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs860464	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv888551	chr7:80620397-80723062	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80659000-80666400	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:80659200-80665600	Weak transcription	HSMM	muscle
3	chr7:80659600-80664800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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