Variant report

Variant	rs58928688
Chromosome Location	chr12:118910135-118910136
allele	G/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:17)

rs_ID	r²[population]
rs55933871	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56187040	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275031	0.87[EUR][1000 genomes]
rs56332125	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56360417	0.85[EUR][1000 genomes]
rs56372834	0.85[EUR][1000 genomes]
rs56400137	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56402717	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56414020	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58067046	0.86[EUR][1000 genomes]
rs59930917	0.87[EUR][1000 genomes]
rs61068630	0.85[EUR][1000 genomes]
rs61944719	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61944720	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61944723	0.87[EUR][1000 genomes]
rs61944729	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61944730	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899548	chr12:118909907-118987597	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 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	chr12:118910000-118911400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:118910000-118911400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	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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