Variant report

Variant	rs74027246
Chromosome Location	chr16:71554469-71554470
allele	A/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	NR2F2	chr16:71554431-71554867	MCF-7	breast:	n/a	n/a
2	ZNF217	chr16:71554427-71554834	MCF-7	breast:	n/a	n/a
3	SIN3AK20	chr16:71554241-71554946	MCF-7	breast:	n/a	n/a
4	NR2F2	chr16:71554196-71554953	MCF-7	breast:	n/a	n/a
5	GATA3	chr16:71554317-71554892	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71554447..71556119-chr16:71559464..71562110,2	MCF-7	breast:

Variant related genes	Relation type
CHST4	TF binding region
ENSG00000140835	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10500558	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640165	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641492	1.00[ASN][1000 genomes]
rs11643216	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645711	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11647749	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12446461	0.84[ASN][1000 genomes]
rs13331346	0.93[ASN][1000 genomes]
rs1609868	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1609869	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16973266	0.86[AMR][1000 genomes]
rs2004672	0.98[ASN][1000 genomes]
rs2070832	0.89[ASN][1000 genomes]
rs2288486	0.95[ASN][1000 genomes]
rs2288487	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2288488	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303788	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28372238	0.98[ASN][1000 genomes]
rs310334	0.96[ASN][1000 genomes]
rs35373081	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35916432	0.93[ASN][1000 genomes]
rs36063092	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3813743	0.93[ASN][1000 genomes]
rs4149498	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4503795	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4620964	0.80[ASN][1000 genomes]
rs58134724	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58452291	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58719913	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59819114	0.83[ASN][1000 genomes]
rs7184543	0.99[ASN][1000 genomes]
rs7186241	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7187165	0.93[ASN][1000 genomes]
rs7187354	0.93[ASN][1000 genomes]
rs7188342	0.93[ASN][1000 genomes]
rs7199026	0.99[ASN][1000 genomes]
rs7199373	0.93[ASN][1000 genomes]
rs7200335	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7200431	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7202662	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7202953	0.95[ASN][1000 genomes]
rs730470	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs732318	0.84[ASN][1000 genomes]
rs74026831	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8044068	0.98[ASN][1000 genomes]
rs8044561	0.98[ASN][1000 genomes]
rs8051212	0.94[ASN][1000 genomes]
rs8053662	0.98[ASN][1000 genomes]
rs8058294	0.93[ASN][1000 genomes]
rs8058776	0.84[ASN][1000 genomes]
rs8061078	0.86[ASN][1000 genomes]
rs9302623	0.94[ASN][1000 genomes]
rs9926110	0.97[ASN][1000 genomes]
rs9928243	0.99[ASN][1000 genomes]
rs9933680	0.98[ASN][1000 genomes]
rs9935426	0.93[ASN][1000 genomes]
rs9936249	0.94[ASN][1000 genomes]
rs9940771	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv906892	chr16:71526720-71570413	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71549200-71558400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:71553600-71555000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:71553800-71554800	Enhancers	HMEC	breast
4	chr16:71553800-71555000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:71554400-71554600	Enhancers	Pancreas	Pancrea
6	chr16:71554400-71554800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:71554400-71555000	Enhancers	Placenta	Placenta

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