Variant report

Variant	rs13030553
Chromosome Location	chr2:53681232-53681233
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53678385..53681345-chr2:53681418..53682934,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11125497	0.95[ASN][1000 genomes]
rs11125498	0.89[ASN][1000 genomes]
rs11125499	0.95[ASN][1000 genomes]
rs11125500	0.97[ASN][1000 genomes]
rs11674306	0.90[ASN][1000 genomes]
rs11680345	0.90[ASN][1000 genomes]
rs11886009	0.91[ASN][1000 genomes]
rs11888392	0.95[ASN][1000 genomes]
rs11888396	0.95[ASN][1000 genomes]
rs11888464	0.95[ASN][1000 genomes]
rs11888509	0.95[ASN][1000 genomes]
rs11888557	0.95[ASN][1000 genomes]
rs11890024	0.95[ASN][1000 genomes]
rs11891803	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894955	0.99[ASN][1000 genomes]
rs12470776	1.00[ASN][1000 genomes]
rs12613505	0.94[ASN][1000 genomes]
rs12616103	0.95[ASN][1000 genomes]
rs12619813	0.96[ASN][1000 genomes]
rs12999083	0.91[ASN][1000 genomes]
rs13025722	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1402899	0.91[ASN][1000 genomes]
rs1494021	0.98[ASN][1000 genomes]
rs1494022	0.98[ASN][1000 genomes]
rs1521924	0.97[ASN][1000 genomes]
rs1521925	0.97[ASN][1000 genomes]
rs1521927	0.97[ASN][1000 genomes]
rs1521928	0.97[ASN][1000 genomes]
rs1521931	0.97[EUR][1000 genomes]
rs1521932	0.91[ASN][1000 genomes]
rs1521947	0.86[ASN][1000 genomes]
rs17044757	0.95[ASN][1000 genomes]
rs1879716	0.98[ASN][1000 genomes]
rs1879717	0.97[ASN][1000 genomes]
rs2357353	0.98[ASN][1000 genomes]
rs2357354	0.97[ASN][1000 genomes]
rs2357355	0.91[ASN][1000 genomes]
rs2357356	0.97[ASN][1000 genomes]
rs2357357	0.97[ASN][1000 genomes]
rs2357358	0.95[ASN][1000 genomes]
rs35278733	0.88[ASN][1000 genomes]
rs35423765	0.95[ASN][1000 genomes]
rs4330141	0.91[ASN][1000 genomes]
rs4365499	0.90[ASN][1000 genomes]
rs4467313	0.97[ASN][1000 genomes]
rs4566397	0.91[ASN][1000 genomes]
rs4671404	0.93[ASN][1000 genomes]
rs4671405	0.97[ASN][1000 genomes]
rs4672432	1.00[ASN][1000 genomes]
rs4672433	1.00[ASN][1000 genomes]
rs4672434	0.99[ASN][1000 genomes]
rs4672435	0.99[ASN][1000 genomes]
rs60013509	0.91[ASN][1000 genomes]
rs60179496	1.00[ASN][1000 genomes]
rs61691489	0.95[ASN][1000 genomes]
rs6419624	0.91[ASN][1000 genomes]
rs6545347	0.90[ASN][1000 genomes]
rs6545348	0.91[ASN][1000 genomes]
rs66734139	0.90[ASN][1000 genomes]
rs6708142	0.98[ASN][1000 genomes]
rs6708820	0.94[ASN][1000 genomes]
rs6718796	0.91[ASN][1000 genomes]
rs6719172	0.91[ASN][1000 genomes]
rs6747348	1.00[ASN][1000 genomes]
rs6748128	0.91[ASN][1000 genomes]
rs6748135	0.91[ASN][1000 genomes]
rs6750492	0.98[ASN][1000 genomes]
rs6759201	0.89[ASN][1000 genomes]
rs7564138	0.88[ASN][1000 genomes]
rs7576429	0.97[ASN][1000 genomes]
rs7588880	0.97[ASN][1000 genomes]
rs7602931	0.86[ASN][1000 genomes]
rs7603213	0.88[ASN][1000 genomes]
rs882249	0.95[ASN][1000 genomes]
rs903230	0.90[ASN][1000 genomes]
rs909050	0.95[ASN][1000 genomes]
rs995151	1.00[ASN][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	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv20666	chr2:53671457-53687640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 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	chr2:53673800-53687200	Weak transcription	Hela-S3	cervix
2	chr2:53678600-53682800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:53679200-53683600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:53680800-53682000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:53681200-53682400	Weak transcription	Fetal Muscle Leg	muscle

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