Variant report

Variant	rs742655
Chromosome Location	chr20:22199503-22199504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr20:22199470-22199527	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000234862	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1090292	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1090293	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1159466	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2876633	0.84[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4815098	0.84[ASN][1000 genomes]
rs6082642	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6113583	0.84[ASN][1000 genomes]
rs6113585	0.84[ASN][1000 genomes]
rs6137582	0.84[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs709005	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709006	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs709007	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs804609	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs804610	0.85[ASN][1000 genomes]
rs804612	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs804614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804615	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804616	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804617	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs804618	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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
rs742655	HSPC072	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22198200-22202800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr20:22198400-22202400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:22198400-22202400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:22198800-22199800	Weak transcription	Fetal Heart	heart
5	chr20:22198800-22200800	Weak transcription	GM12878-XiMat	blood
6	chr20:22198800-22203200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr20:22199000-22200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:22199000-22200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:22199000-22202600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr20:22199200-22199600	Weak transcription	Fetal Muscle Leg	muscle

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