Variant report

Variant	rs12069440
Chromosome Location	chr1:93891844-93891845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11164922	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11164926	0.90[EUR][1000 genomes]
rs11164930	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164932	0.95[ASN][1000 genomes]
rs11164940	0.95[ASN][1000 genomes]
rs11811006	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12060221	0.86[EUR][1000 genomes]
rs12062584	0.90[ASN][1000 genomes]
rs12086857	0.95[ASN][1000 genomes]
rs12096122	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12096561	0.86[EUR][1000 genomes]
rs12409932	0.85[ASN][1000 genomes]
rs12410123	0.95[ASN][1000 genomes]
rs12411095	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1582773	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17109951	0.87[EUR][1000 genomes]
rs17109997	0.85[ASN][1000 genomes]
rs17131718	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17131741	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17387059	0.85[ASN][1000 genomes]
rs1895903	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2011212	0.93[EUR][1000 genomes]
rs2038698	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2081568	0.94[EUR][1000 genomes]
rs3088371	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57710451	0.96[EUR][1000 genomes]
rs59792151	0.93[EUR][1000 genomes]
rs60013975	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60822733	0.95[ASN][1000 genomes]
rs61101021	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61580948	0.93[EUR][1000 genomes]
rs66804824	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6688111	0.87[EUR][1000 genomes]
rs67012296	0.93[EUR][1000 genomes]
rs67998457	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72719185	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72721009	0.95[ASN][1000 genomes]
rs72721010	0.95[ASN][1000 genomes]
rs72721014	0.95[ASN][1000 genomes]
rs72721019	0.95[ASN][1000 genomes]
rs72961351	0.91[EUR][1000 genomes]
rs7339890	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7539210	0.85[EUR][1000 genomes]
rs7541984	0.82[EUR][1000 genomes]
rs900310	0.96[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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3375834	chr1:93872980-93904647	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93889600-93892000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:93891800-93892000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:93891800-93892800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr1:93891800-93893600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:93891800-93893600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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