Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:30928080-30928230	GM12872	blood:	n/a	n/a
2	CTCF	chr22:30928088-30928410	K562	blood:	n/a	n/a
3	NFYB	chr22:30928093-30928428	K562	blood:	n/a	n/a
4	CTCF	chr22:30928091-30928421	A549	lung:	n/a	n/a
5	CTCF	chr22:30928080-30928230	RPTEC	kidney:	n/a	n/a
6	CTCF	chr22:30928080-30928230	GM12873	blood:	n/a	n/a
7	CTCF	chr22:30928080-30928230	GM12870	blood:	n/a	n/a
8	CTCF	chr22:30927991-30928569	A549	lung:	n/a	n/a
9	CTCF	chr22:30928060-30928210	GM12873	blood:	n/a	n/a
10	CTCF	chr22:30928057-30928518	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30902781..30904363-chr22:30927760..30929353,2	K562	blood:

Variant related genes	Relation type
SEC14L6	TF binding region

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10428025	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12166447	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12170589	1.00[EUR][1000 genomes]
rs12170920	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4149493	1.00[EUR][1000 genomes]
rs5749109	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5749115	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5749117	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5749124	1.00[EUR][1000 genomes]
rs5753168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5753178	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753180	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs5753181	0.86[ASN][1000 genomes]
rs5753183	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753194	1.00[EUR][1000 genomes]
rs62226963	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6518696	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6518697	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8135119	0.82[ASN][1000 genomes]
rs8138701	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8138980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs886618	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9619116	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9621016	1.00[EUR][1000 genomes];0.86[ASN][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 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	chr22:30914400-30933400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:30927800-30928600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:30928000-30928200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:30928000-30930200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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