Variant report

Variant	rs73014879
Chromosome Location	chr1:152716057-152716058
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	CEBPB	chr1:152715594-152716284	MCF-7	breast:	n/a	n/a
2	FOXA1	chr1:152715619-152716164	T-47D	breast:	n/a	n/a
3	FOS	chr1:152715714-152716627	MCF10A-Er-Src	breast:	n/a	chr1:152715774-152715785
4	CEBPB	chr1:152715642-152716311	MCF-7	breast:	n/a	n/a
5	STAT3	chr1:152715908-152716800	MCF10A-Er-Src	breast:	n/a	chr1:152716630-152716638
6	STAT3	chr1:152715859-152716636	MCF10A-Er-Src	breast:	n/a	n/a
7	ESR1	chr1:152715552-152716222	T-47D	breast:	n/a	chr1:152715776-152715793
8	FOS	chr1:152715804-152716580	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr1:152715497-152716375	MCF-7	breast:	n/a	n/a
10	ESR1	chr1:152715480-152716273	T-47D	breast:	n/a	chr1:152715776-152715793
11	EP300	chr1:152715557-152716224	MCF-7	breast:	n/a	chr1:152715827-152715837
12	FOS	chr1:152715892-152716661	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr1:152715772-152716626	MCF10A-Er-Src	breast:	n/a	chr1:152715774-152715785
14	ZNF217	chr1:152715632-152716148	MCF-7	breast:	n/a	n/a
15	FOSL2	chr1:152715643-152716348	MCF-7	breast:	n/a	chr1:152715774-152715785
16	ESR1	chr1:152715435-152716287	T-47D	breast:	n/a	chr1:152715776-152715793
17	FOXA1	chr1:152715627-152716103	T-47D	breast:	n/a	n/a
18	GATA3	chr1:152715632-152716168	T-47D	breast:	n/a	n/a
19	EP300	chr1:152715607-152716132	T-47D	breast:	n/a	chr1:152715827-152715837
20	CEBPB	chr1:152716011-152716205	A549	lung:	n/a	n/a
21	NR2F2	chr1:152715495-152716356	MCF-7	breast:	n/a	n/a
22	MYC	chr1:152715910-152716366	MCF10A-Er-Src	breast:	n/a	n/a
23	HDAC2	chr1:152715613-152716313	MCF-7	breast:	n/a	n/a
24	CEBPB	chr1:152715952-152716196	Hela-S3	cervix:	n/a	n/a
25	SIN3AK20	chr1:152715589-152716317	MCF-7	breast:	n/a	n/a
26	ESR1	chr1:152715479-152716275	T-47D	breast:	n/a	chr1:152715776-152715793
27	ESR1	chr1:152715513-152716224	T-47D	breast:	n/a	chr1:152715776-152715793
28	HDAC2	chr1:152715714-152716223	MCF-7	breast:	n/a	n/a
29	STAT3	chr1:152715817-152716726	MCF10A-Er-Src	breast:	n/a	chr1:152716630-152716638
30	MYC	chr1:152715795-152716572	MCF10A-Er-Src	breast:	n/a	n/a
31	GATA3	chr1:152715506-152716301	MCF-7	breast:	n/a	n/a
32	ESR1	chr1:152715549-152716194	T-47D	breast:	n/a	chr1:152715776-152715793

Variant related genes	Relation type
ENSG00000233819	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11205098	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064455	0.81[AFR][1000 genomes]
rs12091871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12093407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41268500	0.83[ASN][1000 genomes]
rs61814477	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv33483	chr1:152550269-152775526	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv547891	chr1:152556085-152770446	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv428521	chr1:152663153-152831578	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3692902	chr1:152669367-152732567	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv947325	chr1:152670204-152793272	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv34854	chr1:152671913-152756806	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv818478	chr1:152672005-152734796	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
15	esv2756865	chr1:152682708-152739226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv2763813	chr1:152687058-152780522	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152711600-152718600	Enhancers	HMEC	breast
2	chr1:152714200-152718600	Enhancers	NHEK	skin
3	chr1:152714400-152718200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:152714600-152721200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:152714800-152719200	Enhancers	NHLF	lung
6	chr1:152715200-152718600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:152715600-152717000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:152715600-152718400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:152715800-152718600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:152715800-152720400	Enhancers	NHDF-Ad	bronchial
11	chr1:152716000-152717200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:152716000-152718600	Enhancers	Placenta	Placenta

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