Variant report

Variant	rs9551722
Chromosome Location	chr13:30290947-30290948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30290596..30292744-chr13:30306487..30308229,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1010154	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12854213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12870250	0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12870927	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467601	0.86[ASN][1000 genomes]
rs1590696	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1752040	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17625129	0.84[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2078408	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs34053860	0.82[ASN][1000 genomes]
rs3858738	0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4769767	0.97[ASN][1000 genomes]
rs4769768	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4769769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6490421	0.92[ASN][1000 genomes]
rs6490422	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6490423	0.93[ASN][1000 genomes]
rs6490424	0.93[ASN][1000 genomes]
rs7317991	0.93[ASN][1000 genomes]
rs7318002	0.93[ASN][1000 genomes]
rs7323986	0.83[ASN][1000 genomes]
rs7324910	0.84[ASN][1000 genomes]
rs7333892	0.93[ASN][1000 genomes]
rs7337296	0.84[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7991022	0.84[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9508530	0.92[ASN][1000 genomes]
rs9508532	0.94[ASN][1000 genomes]
rs9508533	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9508534	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508535	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508536	0.97[ASN][1000 genomes]
rs9508537	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508538	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508539	0.84[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9508540	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9508541	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9550489	0.97[ASN][1000 genomes]
rs9551721	0.87[ASN][1000 genomes]
rs9578132	0.84[CHB][hapmap]
rs9579471	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9634355	0.97[ASN][1000 genomes]
rs997896	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30288800-30292200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:30289800-30292200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:30290000-30292200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:30290800-30291400	Enhancers	GM12878-XiMat	blood

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