Variant report

Variant	rs1393156
Chromosome Location	chr5:40890033-40890034
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40797441..40799812-chr5:40889313..40890816,2	MCF-7	breast:
2	chr5:40877064..40878620-chr5:40889249..40891456,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10035225	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10035592	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10035621	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10041257	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10041319	0.90[EUR][1000 genomes]
rs10051758	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10051888	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10054615	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10054948	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10056047	0.83[EUR][1000 genomes]
rs10056708	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10058274	0.90[EUR][1000 genomes]
rs10059679	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10060965	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10063892	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10066847	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10072099	0.85[ASN][1000 genomes]
rs10072128	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10073246	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10076486	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10076663	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10077786	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10078706	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10079875	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10080165	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10472340	0.85[ASN][1000 genomes]
rs10472342	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10472344	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10473219	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10473220	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10473221	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10473227	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10473228	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10512750	0.85[EUR][1000 genomes]
rs10941526	0.90[EUR][1000 genomes]
rs10941527	0.85[EUR][1000 genomes]
rs1120308	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11739731	0.85[EUR][1000 genomes]
rs11741315	0.85[EUR][1000 genomes]
rs11746650	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11748194	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12109051	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12110278	0.81[AMR][1000 genomes]
rs12652909	0.85[ASN][1000 genomes]
rs12657195	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12658133	0.85[EUR][1000 genomes]
rs12659571	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13353861	0.87[EUR][1000 genomes]
rs13353865	0.89[EUR][1000 genomes]
rs13354561	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13360188	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1393155	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1615402	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1645519	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16870425	0.90[EUR][1000 genomes]
rs16870491	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1697939	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1697940	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1697941	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1697942	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1827363	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1827366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1827367	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs188932	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2081153	0.90[EUR][1000 genomes]
rs225749	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2329430	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2432155	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2455303	0.84[EUR][1000 genomes]
rs2455307	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2455308	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2876848	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28770573	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28831497	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28834109	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28860325	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28870511	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs323555	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs323557	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs323558	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs323559	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs323563	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs323564	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs323566	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34888872	0.85[EUR][1000 genomes]
rs369331	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs373411	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3792640	0.85[EUR][1000 genomes]
rs3792641	0.85[EUR][1000 genomes]
rs4277953	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4277954	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs439322	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4461680	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs446920	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4559041	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs567165	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs619491	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62357063	0.84[EUR][1000 genomes]
rs62357601	0.88[EUR][1000 genomes]
rs62357603	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62357605	0.84[EUR][1000 genomes]
rs62357612	0.88[EUR][1000 genomes]
rs62357636	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62357641	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62358575	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62358580	0.84[EUR][1000 genomes]
rs72749508	0.90[EUR][1000 genomes]
rs72749510	0.85[ASN][1000 genomes]
rs72749514	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72749521	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7445411	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7701643	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7701662	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7701871	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7704691	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7706776	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7711745	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7716062	0.84[EUR][1000 genomes]
rs7717388	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7717391	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7717457	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7717794	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7721703	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7724262	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7731772	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7731944	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7732976	0.90[AMR][1000 genomes]
rs7733440	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs837387	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9292788	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9292790	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9292793	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9292795	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9292798	0.84[EUR][1000 genomes]
rs972007	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs972008	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9885543	0.91[AMR][1000 genomes];0.85[EUR][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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40885200-40895400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40889800-40890200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast

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