Variant report

Variant	rs6695130
Chromosome Location	chr1:70345340-70345341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10399623	0.86[EUR][1000 genomes]
rs10889863	0.82[EUR][1000 genomes]
rs12059668	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12063369	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12086732	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12090593	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17131037	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131039	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131047	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17131053	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17131072	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61782560	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61782572	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61782573	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61784020	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61784021	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61784023	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72676804	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428466	chr1:70306638-70455357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70345000-70345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:70345200-70345600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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