Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr4:129672514-129673143	K562	blood:	n/a	chr4:129672757-129672775
2	EP300	chr4:129672664-129672893	K562	blood:	n/a	n/a
3	MAFK	chr4:129672637-129672929	HepG2	liver:	n/a	chr4:129672813-129672823 chr4:129672813-129672822 chr4:129672758-129672773
4	BACH1	chr4:129672535-129672962	K562	blood:	n/a	n/a
5	GATA1	chr4:129672433-129673013	PBDE	blood:	n/a	n/a
6	ARID3A	chr4:129672594-129672874	K562	blood:	n/a	n/a
7	GATA3	chr4:129672378-129672827	T-47D	breast:	n/a	n/a
8	MAFF	chr4:129672652-129672902	HepG2	liver:	n/a	chr4:129672757-129672775
9	TAL1	chr4:129672692-129672782	K562	blood:	n/a	n/a
10	RCOR1	chr4:129672581-129672857	K562	blood:	n/a	n/a
11	GATA3	chr4:129672453-129672912	SK-N-SH	brain:	n/a	n/a
12	BHLHE40	chr4:129672511-129672893	K562	blood:	n/a	n/a
13	MAFK	chr4:129672549-129672959	K562	blood:	n/a	chr4:129672813-129672823 chr4:129672813-129672822 chr4:129672758-129672773
14	GATA3	chr4:129672397-129672806	T-47D	breast:	n/a	n/a
15	GATA3	chr4:129672328-129672897	SK-N-SH	brain:	n/a	n/a
16	BACH1	chr4:129672639-129672924	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAFK	chr4:129672639-129672918	HepG2	liver:	n/a	chr4:129672813-129672823 chr4:129672813-129672822 chr4:129672758-129672773
18	CCNT2	chr4:129672496-129672832	K562	blood:	n/a	n/a
19	MAFK	chr4:129672658-129672869	H1-hESC	embryonic stem cell:	n/a	chr4:129672813-129672823 chr4:129672813-129672822 chr4:129672758-129672773
20	FOXA1	chr4:129672374-129672711	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000238802	TF binding region

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10030856	0.86[EUR][1000 genomes]
rs13113108	0.80[ASN][1000 genomes]
rs13147889	0.88[ASW][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4975249	0.94[ASW][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129633000-129689600	Weak transcription	Right Atrium	heart
2	chr4:129666600-129692400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129666800-129679000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:129672200-129672800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:129672200-129673000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:129672400-129673000	Flanking Active TSS	K562	blood

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