Variant report

Variant	rs7734458
Chromosome Location	chr5:147685952-147685953
allele	A/C
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	RAD21	chr5:147685917-147686444	MCF-7	breast:	n/a	chr5:147686199-147686218
2	ZNF263	chr5:147685916-147686306	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:147575500..147576422-chr5:147685184..147686083,4	MCF-7	breast:
2	chr5:147639756..147640340-chr5:147685294..147686119,2	MCF-7	breast:
3	chr5:147640461..147641294-chr5:147685206..147686032,5	MCF-7	breast:
4	chr5:147685104..147686094-chr5:147777956..147778480,2	MCF-7	breast:
5	chr5:147575500..147576238-chr5:147685562..147686083,2	MCF-7	breast:
6	chr5:147683748..147686752-chr5:147688766..147691110,3	MCF-7	breast:

Variant related genes	Relation type
PGBD4P3	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10036053	0.95[EUR][1000 genomes]
rs10037318	0.89[EUR][1000 genomes]
rs10044054	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050560	0.89[ASW][hapmap];0.83[CEU][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10057472	0.90[EUR][1000 genomes]
rs10060180	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10060753	0.80[CEU][hapmap]
rs10068891	0.94[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072817	0.93[EUR][1000 genomes]
rs10072958	0.95[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10077690	0.80[CEU][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap]
rs10476892	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477374	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515610	0.89[EUR][1000 genomes]
rs12516267	0.91[EUR][1000 genomes]
rs12519039	0.90[EUR][1000 genomes]
rs12521065	0.95[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs12717971	0.92[EUR][1000 genomes]
rs12717973	0.80[CEU][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap]
rs13153619	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13157347	0.93[EUR][1000 genomes]
rs13158948	0.89[EUR][1000 genomes]
rs13176114	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358385	0.90[EUR][1000 genomes]
rs1345741	0.86[CEU][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs1363704	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1363705	0.89[EUR][1000 genomes]
rs1363707	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs1422968	0.92[EUR][1000 genomes]
rs1422970	0.92[EUR][1000 genomes]
rs1422976	0.90[CEU][hapmap]
rs1422977	0.83[EUR][1000 genomes]
rs1582519	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs17719578	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719662	0.95[EUR][1000 genomes]
rs17719763	0.95[CEU][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17719873	0.92[EUR][1000 genomes]
rs17776554	0.90[EUR][1000 genomes]
rs17776674	0.90[EUR][1000 genomes]
rs1862430	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862431	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2161432	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216653	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2400509	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2400510	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28442279	0.90[EUR][1000 genomes]
rs2895761	0.92[EUR][1000 genomes]
rs34001290	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34163281	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35006442	0.86[EUR][1000 genomes]
rs35700061	0.92[EUR][1000 genomes]
rs35792476	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3749689	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs3749690	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4406123	0.83[EUR][1000 genomes]
rs4705247	0.86[CEU][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs4705248	0.95[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs4705249	0.90[CEU][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4705251	0.90[EUR][1000 genomes]
rs4705252	0.90[CEU][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs6580542	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580544	0.93[EUR][1000 genomes]
rs6580545	0.95[CEU][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs6580546	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs6580548	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860261	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6865036	0.85[EUR][1000 genomes]
rs6865972	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866106	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875252	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875795	0.90[EUR][1000 genomes]
rs6876308	0.90[EUR][1000 genomes]
rs6876982	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs6882932	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886203	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6891724	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892647	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs6893378	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894032	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712350	0.90[EUR][1000 genomes]
rs7713986	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716578	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722458	0.89[EUR][1000 genomes]
rs7729309	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs7730707	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7731526	0.90[EUR][1000 genomes]
rs7736728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9325094	0.89[EUR][1000 genomes]
rs9784645	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999741	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv883016	chr5:147640718-147689700	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv883017	chr5:147640718-147689700	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883018	chr5:147640718-147691470	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv462479	chr5:147648510-147688035	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv599943	chr5:147648510-147688035	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv462480	chr5:147648510-147689700	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv599944	chr5:147648510-147689700	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv883019	chr5:147648750-147689700	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv883020	chr5:147649181-147688035	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv599945	chr5:147649181-147720487	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147671200-147688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147671800-147693800	Weak transcription	Left Ventricle	heart
3	chr5:147685600-147686000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:147685600-147686200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:147685600-147687400	Weak transcription	Fetal Heart	heart

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