Variant report

Variant	rs12125368
Chromosome Location	chr1:222198672-222198673
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11118926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025565	0.83[EUR][1000 genomes]
rs12029332	0.85[EUR][1000 genomes]
rs12032653	0.85[EUR][1000 genomes]
rs12033415	0.90[EUR][1000 genomes]
rs12121134	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125383	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12129860	0.85[EUR][1000 genomes]
rs12135286	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12140604	0.90[EUR][1000 genomes]
rs12731064	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011182	0.90[EUR][1000 genomes]
rs17011200	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17442058	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442323	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35212520	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35718308	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35805428	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56170536	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66732677	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687758	0.91[EUR][1000 genomes]
rs6691195	0.91[EUR][1000 genomes]
rs6695584	0.91[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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12125368	RP11-815M8.1	cis	lung	GTEx
rs12125368	RP11-400N13.2	cis	lung	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222194800-222199000	Weak transcription	Liver	Liver
2	chr1:222195000-222199200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:222195000-222216000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:222198000-222199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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