Variant report

Variant	rs66540465
Chromosome Location	chr5:112840706-112840707
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	chr5:112839548..112841503-chr5:112847639..112850026,2	K562	blood:
2	chr5:112822923..112824962-chr5:112838112..112840774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047188	Chromatin interaction
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10053341	0.87[EUR][1000 genomes]
rs10056194	0.86[EUR][1000 genomes]
rs10065790	0.88[EUR][1000 genomes]
rs10071684	0.89[EUR][1000 genomes]
rs11241213	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13169748	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13174075	0.93[EUR][1000 genomes]
rs13182972	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13436825	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17331844	0.88[EUR][1000 genomes]
rs17388260	0.86[EUR][1000 genomes]
rs17389165	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1816062	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2162841	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2914198	0.82[EUR][1000 genomes]
rs2972689	0.83[EUR][1000 genomes]
rs2972690	0.83[EUR][1000 genomes]
rs33992630	0.84[EUR][1000 genomes]
rs34147627	0.83[EUR][1000 genomes]
rs34324763	0.81[EUR][1000 genomes]
rs35093510	0.81[EUR][1000 genomes]
rs35193208	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35926701	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35933960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36023163	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66572866	0.86[EUR][1000 genomes]
rs6867579	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6871934	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6872490	0.86[EUR][1000 genomes]
rs6879257	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890874	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71577448	0.86[EUR][1000 genomes]
rs72792189	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7706721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7708831	0.81[EUR][1000 genomes]
rs7718203	0.88[EUR][1000 genomes]
rs8180416	0.88[EUR][1000 genomes]
rs9326890	0.84[EUR][1000 genomes]
rs9326891	0.86[EUR][1000 genomes];1.00[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112840200-112841400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:112840200-112841600	Enhancers	NHEK	skin
3	chr5:112840200-112842200	Enhancers	HMEC	breast
4	chr5:112840400-112841400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112840400-112841400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112840400-112841600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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