Variant report

Variant	rs557851
Chromosome Location	chr1:47918842-47918843
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	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10399673	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12070024	0.83[AMR][1000 genomes]
rs12090153	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1316443	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1680018	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1680020	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405922	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2622909	0.81[AMR][1000 genomes]
rs2622917	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2622920	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2622921	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2820970	0.83[ASN][1000 genomes]
rs2820971	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2820974	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3738315	0.89[ASN][1000 genomes]
rs4603175	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs505399	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs524158	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs527551	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs538286	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs571281	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61103903	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6673882	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7526434	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7552140	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9436899	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:47913000-47920800	Weak transcription	Right Atrium	heart
2	chr1:47918000-47919000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr1:47918000-47924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47918800-47919000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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