Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr20:22197662-22197981	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22197366..22199086-chr20:22218639..22220726,2	K562	blood:
2	chr20:22197179..22199086-chr20:22218639..22222093,3	K562	blood:

Variant related genes	Relation type
ENSG00000234862	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1090292	0.83[ASN][1000 genomes]
rs1090293	0.83[ASN][1000 genomes]
rs1159466	0.86[ASN][1000 genomes]
rs12625314	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12625315	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1337906	0.94[EUR][1000 genomes]
rs1337907	0.93[EUR][1000 genomes]
rs1415801	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4815098	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4815099	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6082642	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6113583	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6113585	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6137582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202797	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs709005	0.84[ASN][1000 genomes]
rs709006	0.83[ASN][1000 genomes]
rs709007	0.83[ASN][1000 genomes]
rs742655	0.84[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs804609	0.85[ASN][1000 genomes]
rs804610	0.98[ASN][1000 genomes]
rs804612	0.82[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs804614	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs804615	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs804616	0.85[ASN][1000 genomes]
rs804617	0.83[ASN][1000 genomes]
rs804618	0.83[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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2876633	PLK1S1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22197600-22197800	Flanking Active TSS	NHEK	skin
2	chr20:22197600-22198000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr20:22197600-22198000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:22197600-22198000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:22197600-22198200	Enhancers	GM12878-XiMat	blood
6	chr20:22197600-22198400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:22197600-22198800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr20:22197600-22199000	Enhancers	HUES48 Cell Line	embryonic stem cell

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