Variant report

Variant	rs57757593
Chromosome Location	chr1:184230062-184230063
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:46)

rs_ID	r²[population]
rs1024298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1024300	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494577	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10911529	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911541	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10911556	0.83[EUR][1000 genomes]
rs10911557	0.83[EUR][1000 genomes]
rs12079075	0.90[EUR][1000 genomes]
rs12079081	0.92[EUR][1000 genomes]
rs12096575	0.83[EUR][1000 genomes]
rs12117439	0.94[EUR][1000 genomes]
rs12117567	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12119073	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12132917	0.86[EUR][1000 genomes]
rs12401350	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12401363	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12402670	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12403673	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408100	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12726078	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12727591	0.83[EUR][1000 genomes]
rs12728309	0.90[EUR][1000 genomes]
rs12742417	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12746749	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12756256	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1318406	0.94[EUR][1000 genomes]
rs1409808	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1409810	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1854085	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1930291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161989	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2378840	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34306471	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35861687	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36020636	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4263963	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618934	0.83[EUR][1000 genomes]
rs4651196	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6670049	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6690614	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7529843	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs890065	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9645302	0.83[EUR][1000 genomes]
rs984419	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184224400-184233000	Weak transcription	Fetal Heart	heart
2	chr1:184225800-184233200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:184227800-184239800	Weak transcription	Psoas Muscle	Psoas
4	chr1:184229200-184230400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:184229400-184230200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:184229400-184230600	Enhancers	NHLF	lung
7	chr1:184229600-184230400	Weak transcription	HSMM	muscle

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