Variant report

Variant	rs12080065
Chromosome Location	chr1:173286704-173286705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10912581	0.88[AFR][1000 genomes]
rs10912585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912587	0.93[AFR][1000 genomes]
rs10912589	0.94[AFR][1000 genomes]
rs11487380	0.93[AFR][1000 genomes]
rs12080593	0.97[AFR][1000 genomes]
rs12083609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376392	1.00[EUR][1000 genomes]
rs1590497	1.00[EUR][1000 genomes]
rs28498292	0.87[AMR][1000 genomes]
rs34538393	1.00[EUR][1000 genomes]
rs35133735	1.00[EUR][1000 genomes]
rs56190800	1.00[EUR][1000 genomes]
rs57058504	1.00[EUR][1000 genomes]
rs60178210	0.81[AFR][1000 genomes]
rs61533092	1.00[EUR][1000 genomes]
rs6665165	1.00[EUR][1000 genomes]
rs6680684	1.00[EUR][1000 genomes]
rs6703355	1.00[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:173264600-173298200	Weak transcription	HSMMtube	muscle
2	chr1:173285000-173300200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:173286200-173289000	Weak transcription	Gastric	stomach

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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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