Variant report

Variant	rs12751433
Chromosome Location	chr1:193636956-193636957
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	chr1:193631362..193634280-chr1:193636657..193638784,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12060042	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12079227	0.81[ASN][1000 genomes]
rs12116751	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131305	0.85[ASN][1000 genomes]
rs12134206	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12135345	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12138394	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144307	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12726685	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737948	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747654	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12756397	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339319	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887629	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34195829	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34597749	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35418296	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657872	0.81[ASN][1000 genomes]
rs4657874	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60581324	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831962	0.85[ASN][1000 genomes]
rs61831963	0.85[ASN][1000 genomes]
rs6428182	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678275	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689774	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6691652	1.00[CHD][hapmap]
rs6695669	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703565	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71642926	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7512670	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524134	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524872	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541624	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7541925	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7550219	0.92[EUR][1000 genomes];1.00[ASN][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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34989	chr1:193630577-193710196	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2756877	chr1:193631528-193710196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758986	chr1:193631528-193710196	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193636200-193637400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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