Variant report

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:22274193-22274570	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr12:22274123-22274656	MCF-7	breast:	n/a	n/a
3	CTCF	chr12:22274197-22274583	K562	blood:	n/a	n/a
4	RAD21	chr12:22274098-22274680	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr12:22274161-22274620	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr12:22274148-22274574	MCF-7	breast:	n/a	chr12:22274303-22274313
7	RAD21	chr12:22274169-22274579	HepG2	liver:	n/a	n/a
8	CTCF	chr12:22274480-22274630	HMEC	breast:	n/a	n/a
9	RAD21	chr12:22274155-22274611	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr12:22274500-22274650	NHLF	lung:	n/a	n/a
11	CTCF	chr12:22274012-22274768	A549	lung:	n/a	n/a
12	CTCF	chr12:22274540-22274690	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr12:22274300-22274590	GM12870	blood:	n/a	n/a
14	CTCF	chr12:22274196-22274618	K562	blood:	n/a	n/a
15	CTCF	chr12:22274103-22274572	MCF-7	breast:	n/a	n/a
16	RAD21	chr12:22274155-22274604	A549	lung:	n/a	n/a
17	CTCF	chr12:22274118-22274591	A549	lung:	n/a	n/a
18	CTCF	chr12:22274072-22274642	MCF-7	breast:	n/a	n/a
19	TCF12	chr12:22274178-22274569	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr12:22274155-22274598	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:22274152-22274598	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22273884..22274876-chr12:22325749..22326717,3	MCF-7	breast:
2	chr12:22274157..22274855-chr12:22488371..22489172,4	MCF-7	breast:

No data

Variant related genes	Relation type
ST8SIA1	TF binding region
ENSG00000111728	Chromatin interaction

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10841952	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10841963	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11046313	0.99[ASN][1000 genomes]
rs11046315	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11046324	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11046327	0.81[ASN][1000 genomes]
rs11609387	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11833134	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2080552	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2216297	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4762729	0.94[ASN][1000 genomes]
rs4762730	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4762732	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56116819	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301927	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7964713	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7969254	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22274000-22274600	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:22274000-22274600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:22274000-22274600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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