Variant report

Variant	rs12486131
Chromosome Location	chr3:110606053-110606054
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	chr3:110573429..110575508-chr3:110604806..110607616,2	K562	blood:
2	chr3:110599278..110601634-chr3:110605816..110607505,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10804483	0.89[ASN][1000 genomes]
rs10934069	0.97[ASN][1000 genomes]
rs10934071	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12487985	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12489425	0.97[ASN][1000 genomes]
rs12496404	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12497871	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1381837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16857292	0.97[ASN][1000 genomes]
rs16857314	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16857339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16857389	0.93[ASN][1000 genomes]
rs2399346	0.97[ASN][1000 genomes]
rs55731361	0.93[ASN][1000 genomes]
rs55821185	0.94[ASN][1000 genomes]
rs55885236	0.94[ASN][1000 genomes]
rs55956794	0.93[ASN][1000 genomes]
rs55979905	0.94[ASN][1000 genomes]
rs57324566	0.84[ASN][1000 genomes]
rs6765133	0.90[CHB][hapmap]
rs6788768	0.97[ASN][1000 genomes]
rs73851731	0.94[ASN][1000 genomes]
rs73851732	0.94[ASN][1000 genomes]
rs73851737	0.94[ASN][1000 genomes]
rs73851749	0.96[ASN][1000 genomes]
rs73851750	0.95[ASN][1000 genomes]
rs73851764	0.97[ASN][1000 genomes]
rs73851765	0.97[ASN][1000 genomes]
rs73851768	0.97[ASN][1000 genomes]
rs73852317	0.93[ASN][1000 genomes]
rs73852320	0.91[ASN][1000 genomes]
rs73852354	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73854204	0.97[ASN][1000 genomes]
rs73854208	0.97[ASN][1000 genomes]
rs73854216	0.97[ASN][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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1014199	chr3:110293896-110754155	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:110594200-110607600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:110604800-110606200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:110605400-110606200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:110605800-110607000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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