Variant report

Variant	rs12654895
Chromosome Location	chr5:51963369-51963370
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	chr5:51962186..51964324-chr5:51971783..51973815,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10461560	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10512982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805439	0.99[ASN][1000 genomes]
rs10940262	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11745561	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13162400	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs164427	0.99[ASN][1000 genomes]
rs181271	0.91[ASN][1000 genomes]
rs350412	0.93[ASN][1000 genomes]
rs350422	0.94[ASN][1000 genomes]
rs350424	0.93[ASN][1000 genomes]
rs351908	0.80[ASN][1000 genomes]
rs351957	0.93[ASN][1000 genomes]
rs351959	0.94[ASN][1000 genomes]
rs351960	0.94[ASN][1000 genomes]
rs35615166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35741743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865737	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs623193	0.81[ASN][1000 genomes]
rs62358725	0.89[ASN][1000 genomes]
rs6450076	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs660801	0.89[ASN][1000 genomes]
rs6879654	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6893614	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs768442	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768443	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715220	0.98[ASN][1000 genomes]
rs7716424	0.89[ASN][1000 genomes]
rs7732098	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752072	chr5:51649222-51972277	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51958000-51965800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:51961800-51964600	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:51962000-51964400	Weak transcription	NHDF-Ad	bronchial

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