Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110685353..110687953-chr4:110736062..110738998,3	K562	blood:

Variant related genes	Relation type
ENSG00000109534	Chromatin interaction
ENSG00000272795	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10016598	0.85[ASN][1000 genomes]
rs10049804	0.87[ASN][1000 genomes]
rs10857001	0.87[ASN][1000 genomes]
rs11098046	1.00[ASN][1000 genomes]
rs11734208	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108145	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13129180	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040826	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17610314	0.85[EUR][1000 genomes]
rs2298749	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3822272	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4299581	0.87[ASN][1000 genomes]
rs4469075	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4698790	0.87[ASN][1000 genomes]
rs62324896	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7356506	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7439356	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7442601	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs885448	0.84[EUR][1000 genomes]
rs9647471	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9654197	0.86[ASN][1000 genomes]
rs9714929	0.81[EUR][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	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv4463	chr4:110647731-110693125	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110659200-110689000	Weak transcription	Fetal Intestine Large	intestine
2	chr4:110665000-110690400	Weak transcription	Fetal Intestine Small	intestine
3	chr4:110670600-110692000	Weak transcription	Pancreas	Pancrea
4	chr4:110685400-110687000	Enhancers	K562	blood
5	chr4:110685400-110687600	Strong transcription	HepG2	liver
6	chr4:110685800-110687400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:110686000-110687400	Enhancers	Ovary	ovary
8	chr4:110686800-110689800	Weak transcription	Liver	Liver

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