Variant report

Variant	rs12060100
Chromosome Location	chr1:70462920-70462921
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11802766	0.87[AMR][1000 genomes]
rs12062605	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12066962	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12088269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131125	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55858638	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56278841	0.90[EUR][1000 genomes]
rs58574417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66724614	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67032718	0.95[EUR][1000 genomes]
rs72676873	0.90[EUR][1000 genomes]
rs72676875	0.90[EUR][1000 genomes]
rs72676880	0.90[EUR][1000 genomes]
rs7554827	0.87[AMR][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	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv871018	chr1:70450024-70496379	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv526839	chr1:70459886-70475794	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70450800-70481200	Weak transcription	Fetal Brain Female	brain
2	chr1:70457800-70464600	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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