Variant report

Variant	rs12080671
Chromosome Location	chr1:79677515-79677516
allele	A/C
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:15)

rs_ID	r²[population]
rs10218465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10218839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10489652	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12074697	0.80[AFR][1000 genomes]
rs12077798	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12080703	0.82[AFR][1000 genomes]
rs12080744	0.82[AFR][1000 genomes]
rs12089786	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12091759	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12092829	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17102918	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17102934	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57890283	0.84[AFR][1000 genomes]
rs58899147	0.84[AFR][1000 genomes]
rs72941324	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999471	chr1:79650363-79774433	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79665200-79682400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	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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