Variant report

Variant	rs12057566
Chromosome Location	chr1:211660726-211660727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211659802..211661927-chr1:211729517..211731998,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10159027	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1084977	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1533220	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs1707252	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1707266	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1983259	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs3855878	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs56032913	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56105820	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56197256	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59256122	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6663627	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs73072846	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73072847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73072849	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73072853	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7354818	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7354876	1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7355003	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7355098	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7355103	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7355184	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7355185	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7355215	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74138748	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74138754	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74138755	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74138756	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74138757	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74138758	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74138763	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7529964	0.86[EUR][1000 genomes]
rs784366	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs784374	1.00[TSI][hapmap]
rs784375	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs784378	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs784380	1.00[GIH][hapmap];0.82[MEX][hapmap]
rs9308420	0.83[AMR][1000 genomes];0.97[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211647800-211664600	Weak transcription	Gastric	stomach
2	chr1:211648000-211665600	Weak transcription	Right Atrium	heart
3	chr1:211657000-211663000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:211657600-211663800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:211658200-211663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:211659000-211661000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:211659200-211661000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:211659200-211666800	Weak transcription	Fetal Heart	heart
9	chr1:211659200-211687600	Weak transcription	Spleen	Spleen
10	chr1:211659400-211663000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:211659600-211661000	Weak transcription	Fetal Muscle Trunk	muscle

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