Variant report

Variant	rs12126834
Chromosome Location	chr1:166159166-166159167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10494453	0.91[EUR][1000 genomes]
rs10494455	0.92[EUR][1000 genomes]
rs10800185	0.82[AMR][1000 genomes]
rs10800198	0.92[EUR][1000 genomes]
rs10800199	0.94[EUR][1000 genomes]
rs10800200	0.93[EUR][1000 genomes]
rs10800201	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10918369	0.88[AMR][1000 genomes]
rs10918381	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10918383	0.94[EUR][1000 genomes]
rs10918384	0.94[EUR][1000 genomes]
rs10918385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918386	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12023523	0.94[EUR][1000 genomes]
rs12031538	0.91[EUR][1000 genomes]
rs12076837	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12136704	0.91[EUR][1000 genomes]
rs12144426	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12402371	0.94[EUR][1000 genomes]
rs12409766	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12734750	0.93[EUR][1000 genomes]
rs12760939	0.81[ASN][1000 genomes]
rs1349526	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1349527	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1432119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451606	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1529642	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1530889	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1551179	0.90[EUR][1000 genomes]
rs1864791	0.94[EUR][1000 genomes]
rs2116519	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4074897	0.88[AMR][1000 genomes]
rs4449996	0.81[AMR][1000 genomes]
rs4656481	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656484	0.93[EUR][1000 genomes]
rs4656485	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4657530	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6426968	0.80[AMR][1000 genomes]
rs6681924	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6696964	0.91[EUR][1000 genomes]
rs6698285	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6698973	0.87[AMR][1000 genomes]
rs6700193	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs715421	0.91[EUR][1000 genomes]
rs724139	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7513325	0.88[AMR][1000 genomes]
rs7548172	0.90[EUR][1000 genomes]
rs896403	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs896404	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9787101	0.91[EUR][1000 genomes]
rs9787239	0.91[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166147600-166165800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:166158200-166160000	Enhancers	HMEC	breast
3	chr1:166158600-166159200	Enhancers	K562	blood
4	chr1:166159000-166160000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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