Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr22:30901134-30902063	H1-hESC	embryonic stem cell:	n/a	chr22:30901235-30901245 chr22:30901641-30901650 chr22:30901642-30901652
2	CTCF	chr22:30901911-30902013	Kidney_OC	kidney:	n/a	n/a
3	POLR2A	chr22:30901174-30901995	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr22:30901946-30902009	GM10248	blood:	n/a	n/a

Variant related genes	Relation type
SEC14L4	TF binding region

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10428025	1.00[ASN][1000 genomes]
rs12166447	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170589	1.00[EUR][1000 genomes]
rs12170920	1.00[ASN][1000 genomes]
rs4149493	1.00[EUR][1000 genomes]
rs5749109	0.86[ASN][1000 genomes]
rs5749115	1.00[ASN][1000 genomes]
rs5749117	1.00[ASN][1000 genomes]
rs5749124	1.00[EUR][1000 genomes]
rs5753168	0.90[ASN][1000 genomes]
rs5753178	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753180	1.00[ASN][1000 genomes]
rs5753181	1.00[ASN][1000 genomes]
rs5753183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753194	1.00[EUR][1000 genomes]
rs6518696	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6518697	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7289983	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8135119	0.96[ASN][1000 genomes]
rs8138701	0.94[ASN][1000 genomes]
rs8138980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs886618	0.83[ASN][1000 genomes]
rs9619116	0.90[ASN][1000 genomes]
rs9621003	0.86[ASN][1000 genomes]
rs9621016	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3413089	chr22:30888110-30921604	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30898200-30903600	Enhancers	HepG2	liver
2	chr22:30900200-30902000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:30900600-30902000	Active TSS	Hela-S3	cervix
4	chr22:30901200-30902000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr22:30901200-30902000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:30901200-30902000	Bivalent Enhancer	Placenta	Placenta
7	chr22:30901200-30902000	Active TSS	A549	lung
8	chr22:30901400-30902600	Enhancers	Esophagus	oesophagus
9	chr22:30901600-30902000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr22:30901600-30902000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr22:30901600-30903400	Enhancers	Liver	Liver
12	chr22:30901800-30902000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:30901800-30902000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:30901800-30902000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:30901800-30902000	Enhancers	HMEC	breast
16	chr22:30901800-30902400	Weak transcription	Gastric	stomach

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