Variant report

Variant	rs557765
Chromosome Location	chr1:215077613-215077614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215068841..215070967-chr1:215076035..215077842,2	MCF-7	breast:
2	chr1:215072041..215074591-chr1:215077399..215079540,2	K562	blood:

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

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

rs_ID	r²[population]
rs12750128	0.87[EUR][1000 genomes]
rs1779679	0.83[AFR][1000 genomes]
rs472961	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs475341	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs476910	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs477485	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs478664	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs494808	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs497870	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap]
rs506436	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs512597	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs520394	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527769	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530931	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap]
rs554343	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs558728	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs558879	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs561766	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs564291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566170	0.92[JPT][hapmap]
rs6540867	0.92[YRI][hapmap]
rs6658958	0.92[JPT][hapmap]
rs6684902	0.82[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs896652	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[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	nsv873167	chr1:214950361-215116947	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs557765	LEF1	trans	lymphoblastoid	seeQTL
rs557765	C1orf227	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215077000-215078000	Weak transcription	NHLF	lung
2	chr1:215077600-215077800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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