Variant report

Variant	rs8112027
Chromosome Location	chr19:39584761-39584762
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	chr19:39584466-39584815	Hela-S3	cervix:	n/a	chr19:39584631-39584642
2	FOS	chr19:39584365-39584841	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:39584517-39584775	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr19:39584372-39584789	MCF10A-Er-Src	breast:	n/a	chr19:39584539-39584550
5	STAT3	chr19:39584321-39584855	MCF10A-Er-Src	breast:	n/a	chr19:39584539-39584550
6	MYC	chr19:39584496-39584786	NB4	blood:	n/a	chr19:39584669-39584679
7	CEBPB	chr19:39584303-39584947	A549	lung:	n/a	chr19:39584631-39584642
8	FOS	chr19:39584359-39584817	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr19:39584460-39584862	MCF10A-Er-Src	breast:	n/a	chr19:39584669-39584679
10	MAX	chr19:39584529-39584838	NB4	blood:	n/a	chr19:39584669-39584679
11	SRF	chr19:39584401-39584847	ECC-1	luminal epithelium:	n/a	chr19:39584596-39584614
12	MYC	chr19:39584435-39584881	MCF10A-Er-Src	breast:	n/a	chr19:39584669-39584679
13	STAT3	chr19:39584307-39584817	MCF10A-Er-Src	breast:	n/a	chr19:39584539-39584550
14	FOS	chr19:39584428-39584806	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr19:39584357-39584816	MCF10A-Er-Src	breast:	n/a	chr19:39584539-39584550
16	ELK4	chr19:39584514-39584766	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr19:39584327-39584816	MCF10A-Er-Src	breast:	n/a	chr19:39584539-39584550
18	MAFK	chr19:39584547-39584980	IMR90	lung:	n/a	n/a
19	CEBPB	chr19:39584468-39584795	A549	lung:	n/a	chr19:39584631-39584642
20	FOS	chr19:39584408-39584786	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr19:39584377-39584789	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr19:39584445-39584828	IMR90	lung:	n/a	chr19:39584631-39584642

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39583908..39586017-chr19:39616320..39617985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183760	TF binding region
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58573578	1.00[AMR][1000 genomes]
rs674440	1.00[GIH][hapmap]
rs692095	1.00[GIH][hapmap]
rs8101599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8111459	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1067028	chr19:39567228-39622846	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1060469	chr19:39567228-39624790	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39575800-39601200	Weak transcription	HMEC	breast
2	chr19:39577800-39585000	Weak transcription	Fetal Intestine Small	intestine
3	chr19:39584200-39585000	Enhancers	Osteobl	bone
4	chr19:39584200-39585400	Enhancers	Placenta	Placenta
5	chr19:39584400-39584800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:39584400-39584800	Enhancers	A549	lung
7	chr19:39584400-39584800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr19:39584400-39584800	Enhancers	NHEK	skin
9	chr19:39584400-39585000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:39584400-39585000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
11	chr19:39584400-39585000	Enhancers	NHDF-Ad	bronchial
12	chr19:39584600-39584800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr19:39584600-39584800	Flanking Active TSS	Hela-S3	cervix
14	chr19:39584600-39585000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:39584600-39585000	Enhancers	Primary monocytes fromperipheralblood	blood

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