Variant report

Variant	rs13176550
Chromosome Location	chr5:126105566-126105567
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126082787..126085328-chr5:126105357..126106896,2	K562	blood:
2	chr5:126104684..126109670-chr5:126109839..126114293,5	MCF-7	breast:
3	chr5:126105515..126109779-chr5:126111989..126113689,4	MCF-7	breast:
4	chr5:126103041..126108565-chr5:126110656..126115993,14	K562	blood:

Variant related genes	Relation type
ENSG00000251072	Chromatin interaction
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11241908	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241910	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741648	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11748362	0.90[EUR][1000 genomes]
rs11748369	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12514715	0.88[EUR][1000 genomes]
rs13181450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964723	0.88[EUR][1000 genomes]
rs2036847	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2408776	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34433938	0.86[ASN][1000 genomes]
rs34740558	0.84[ASN][1000 genomes]
rs35036110	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35091677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35137067	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35156477	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35500127	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35991959	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3805738	0.86[EUR][1000 genomes]
rs3805744	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3828699	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57812062	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62391707	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6595735	0.87[AFR][1000 genomes]
rs6595736	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595738	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67386870	0.83[ASN][1000 genomes]
rs6873056	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6873780	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6874037	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6894559	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72798244	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7708419	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7709312	0.81[AMR][1000 genomes];0.86[EUR][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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr5:126102400-126111200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:126104600-126105800	Enhancers	GM12878-XiMat	blood

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