Variant report

Variant	rs28712544
Chromosome Location	chr14:64014596-64014597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr14:64014538-64014855	ECC-1	luminal epithelium:	n/a	n/a
2	NR2F2	chr14:64014479-64015179	MCF-7	breast:	n/a	n/a
3	ESR1	chr14:64014454-64014953	ECC-1	luminal epithelium:	n/a	n/a
4	SIN3AK20	chr14:64014422-64015221	MCF-7	breast:	n/a	n/a
5	GATA3	chr14:64014145-64015174	MCF-7	breast:	n/a	chr14:64015055-64015065 chr14:64014210-64014220
6	ESR1	chr14:64014519-64015142	T-47D	breast:	n/a	n/a
7	ESR1	chr14:64014443-64015145	T-47D	breast:	n/a	n/a
8	ESR1	chr14:64014518-64015061	T-47D	breast:	n/a	n/a
9	ESR1	chr14:64014491-64015022	T-47D	breast:	n/a	n/a
10	KAP1	chr14:64014047-64015058	HEK293	kidney:	n/a	n/a
11	ESR1	chr14:64014399-64014930	ECC-1	luminal epithelium:	n/a	n/a
12	GATA3	chr14:64014524-64015203	MCF-7	breast:	n/a	chr14:64015055-64015065
13	GATA3	chr14:64014543-64015145	T-47D	breast:	n/a	chr14:64015055-64015065
14	ESR1	chr14:64014456-64015045	T-47D	breast:	n/a	n/a
15	ESR1	chr14:64014486-64014892	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64008318..64010190-chr14:64013989..64016073,2	K562	blood:
2	chr14:64010284..64012282-chr14:64012657..64015493,5	MCF-7	breast:

Variant related genes	Relation type
PPP2R5E	TF binding region
ENSG00000154001	Chromatin interaction
ENSG00000261242	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10136489	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10139904	0.87[EUR][1000 genomes]
rs10142811	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143003	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10148041	0.87[EUR][1000 genomes]
rs10150465	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10467817	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10498508	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12050157	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12323619	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12323783	0.80[EUR][1000 genomes]
rs12433448	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28479545	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688632	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28834707	0.94[EUR][1000 genomes]
rs3783738	0.86[EUR][1000 genomes]
rs4902233	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902234	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55858056	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60971465	0.85[EUR][1000 genomes]
rs61983974	0.87[EUR][1000 genomes]
rs61983975	0.87[EUR][1000 genomes]
rs61984001	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61984002	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61984003	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61984005	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145363	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7145769	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7151914	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153729	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72716312	0.96[EUR][1000 genomes];0.96[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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64011000-64021600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:64011600-64014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:64011600-64018000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:64011800-64018000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:64012000-64018200	Weak transcription	A549	lung
6	chr14:64012200-64017800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:64014000-64014800	Enhancers	K562	blood
8	chr14:64014400-64014800	Enhancers	Placenta	Placenta
9	chr14:64014400-64015200	Flanking Active TSS	HepG2	liver

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