Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29269180..29273924-chr22:29276506..29281046,6	K562	blood:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

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

rs_ID	r²[population]
rs16986814	1.00[EUR][1000 genomes]
rs2881637	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752820	0.87[EUR][1000 genomes]
rs5752830	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752839	0.85[EUR][1000 genomes]
rs5762873	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762876	0.98[ASN][1000 genomes]
rs5762890	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762891	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762893	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762895	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762900	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762906	0.85[EUR][1000 genomes]
rs5762907	0.87[EUR][1000 genomes]
rs7286026	0.87[EUR][1000 genomes]
rs7288513	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7290364	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8137589	0.90[EUR][1000 genomes]
rs9306461	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625613	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9625621	1.00[EUR][1000 genomes]
rs9625622	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625628	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625640	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625641	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9625645	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625647	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 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	chr22:29266200-29278400	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29271200-29276000	Weak transcription	Fetal Muscle Leg	muscle
3	chr22:29271200-29276800	Weak transcription	HepG2	liver
4	chr22:29271400-29276000	Weak transcription	HSMMtube	muscle

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