Variant report

Variant	rs7709676
Chromosome Location	chr5:147297817-147297818
allele	G/T
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	FOS	chr5:147297605-147298029	HUVEC	blood vessel:	n/a	chr5:147297880-147297891
2	FOS	chr5:147297673-147298066	MCF10A-Er-Src	breast:	n/a	chr5:147297880-147297891
3	FOS	chr5:147297628-147298120	MCF10A-Er-Src	breast:	n/a	chr5:147297880-147297891
4	FOS	chr5:147297676-147298063	MCF10A-Er-Src	breast:	n/a	chr5:147297880-147297891
5	E2F4	chr5:147297702-147298001	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr5:147297723-147297985	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:147297652-147298066	MCF10A-Er-Src	breast:	n/a	chr5:147297880-147297891
8	STAT3	chr5:147297650-147297961	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
EEF1GP2	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10463392	1.00[ASN][1000 genomes]
rs11168005	0.86[ASN][1000 genomes]
rs12523585	0.82[ASN][1000 genomes]
rs12523630	0.82[ASN][1000 genomes]
rs12651889	0.84[ASN][1000 genomes]
rs1368409	0.85[ASN][1000 genomes]
rs1368410	0.85[ASN][1000 genomes]
rs1368411	0.85[ASN][1000 genomes]
rs1432976	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432977	0.99[ASN][1000 genomes]
rs1465404	0.86[ASN][1000 genomes]
rs1864994	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.98[ASN][1000 genomes]
rs1864997	0.94[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs2400441	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs4447974	0.83[ASN][1000 genomes]
rs4591739	0.83[ASN][1000 genomes]
rs56252414	0.89[ASN][1000 genomes]
rs56910665	0.84[ASN][1000 genomes]
rs60172148	0.85[ASN][1000 genomes]
rs62379461	1.00[ASN][1000 genomes]
rs6580509	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580510	0.86[ASN][1000 genomes]
rs6867813	0.84[ASN][1000 genomes]
rs6873510	0.83[ASN][1000 genomes]
rs6894752	0.84[ASN][1000 genomes]
rs721570	0.86[ASN][1000 genomes]
rs7716784	0.86[ASN][1000 genomes]
rs7731860	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147292400-147300400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:147293400-147298000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:147293600-147298000	Weak transcription	HMEC	breast
4	chr5:147297200-147298000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:147297200-147298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:147297200-147298600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:147297400-147298000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:147297400-147299000	Enhancers	NHEK	skin
9	chr5:147297600-147298800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:147297600-147299400	Enhancers	Hela-S3	cervix
11	chr5:147297800-147299400	Enhancers	NH-A	brain

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