Variant report

Variant	rs12547260
Chromosome Location	chr8:100916000-100916001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100915649..100917743-chr8:100919387..100921014,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10955222	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10955223	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1130474	0.99[ASN][1000 genomes]
rs1130569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1135382	0.94[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap]
rs12544943	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12545930	0.90[ASN][1000 genomes]
rs12548542	0.99[ASN][1000 genomes]
rs12548840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13252579	0.85[ASN][1000 genomes]
rs13253073	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13259051	0.99[ASN][1000 genomes]
rs13259066	0.82[ASN][1000 genomes]
rs13277184	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2305290	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs34029308	0.84[ASN][1000 genomes]
rs35935983	0.84[ASN][1000 genomes]
rs4409375	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4480092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4510829	0.88[CHB][hapmap];0.88[CHD][hapmap];0.87[MKK][hapmap]
rs4626565	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap]
rs62534633	1.00[ASN][1000 genomes]
rs6468694	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7015733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7157	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs7812991	1.00[ASN][1000 genomes]
rs7828241	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7840626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7844439	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap]

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	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12547260	VPS13B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100913600-100916200	Weak transcription	Placenta	Placenta

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