Variant report

Variant	rs9834511
Chromosome Location	chr3:54675099-54675100
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	chr3:54674829-54675153	K562	blood:	n/a	chr3:54674987-54674998 chr3:54674987-54675000 chr3:54674987-54675000 chr3:54674988-54674999 chr3:54674863-54674876 chr3:54674989-54674998
2	CEBPB	chr3:54674807-54675436	H1-hESC	embryonic stem cell:	n/a	chr3:54674987-54674998 chr3:54674987-54675000 chr3:54674987-54675000 chr3:54674988-54674999 chr3:54674863-54674876 chr3:54674989-54674998
3	SIN3A	chr3:54673987-54676018	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU5F1	chr3:54675005-54675539	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr3:54674840-54675118	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr3:54674840-54675118	Hela-S3	cervix:	n/a	chr3:54674987-54674998 chr3:54674987-54675000 chr3:54674987-54675000 chr3:54674988-54674999 chr3:54674863-54674876 chr3:54674989-54674998
7	CEBPB	chr3:54674809-54675161	A549	lung:	n/a	chr3:54674987-54674998 chr3:54674987-54675000 chr3:54674987-54675000 chr3:54674988-54674999 chr3:54674863-54674876 chr3:54674989-54674998
8	JUND	chr3:54675088-54676024	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr3:54674830-54675164	IMR90	lung:	n/a	chr3:54674987-54674998 chr3:54674987-54675000 chr3:54674987-54675000 chr3:54674988-54674999 chr3:54674863-54674876 chr3:54674989-54674998
10	CEBPB	chr3:54674822-54675157	HepG2	liver:	n/a	chr3:54674987-54674998 chr3:54674987-54675000 chr3:54674987-54675000 chr3:54674988-54674999 chr3:54674863-54674876 chr3:54674989-54674998

Variant related genes	Relation type
ESRG	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17081825	1.00[EUR][1000 genomes]
rs28804505	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59697135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60521313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60564591	1.00[EUR][1000 genomes]
rs9813045	1.00[EUR][1000 genomes]
rs9817791	0.89[AMR][1000 genomes]
rs9819282	1.00[EUR][1000 genomes]
rs9830638	0.89[AMR][1000 genomes]
rs9840098	1.00[EUR][1000 genomes]
rs9856685	0.89[AMR][1000 genomes]
rs9865838	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs9989955	0.89[AMR][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	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv525644	chr3:54653316-54709987	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54663600-54683800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:54674200-54675400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:54674200-54676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:54674200-54676800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr3:54674200-54676800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:54674200-54677000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:54674200-54677000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:54674200-54677400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:54674400-54675200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:54674400-54675400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:54674400-54675400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr3:54674400-54676200	Enhancers	HMEC	breast
13	chr3:54674400-54676600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr3:54674400-54677800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:54674400-54678000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:54674800-54675400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:54675000-54675200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr3:54675000-54675200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
19	chr3:54675000-54676000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:54675000-54676600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:54675000-54677200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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