Variant report

Variant	rs60874066
Chromosome Location	chr12:48896529-48896530
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48896451-48896775	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48895668..48898227-chr12:48901452..48904009,2	MCF-7	breast:
2	chr12:48888880..48891853-chr12:48895392..48897603,2	MCF-7	breast:

Variant related genes	Relation type
OR8S1	TF binding region
ENSG00000258121	TF binding region

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11168584	0.87[EUR][1000 genomes]
rs11609658	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11612896	0.87[EUR][1000 genomes]
rs11613869	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830262	0.87[EUR][1000 genomes]
rs11833650	0.87[EUR][1000 genomes]
rs11834979	0.87[EUR][1000 genomes]
rs11836257	0.86[EUR][1000 genomes]
rs11837374	0.87[EUR][1000 genomes]
rs12318285	0.87[ASN][1000 genomes]
rs12424097	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424940	0.87[EUR][1000 genomes]
rs12425518	0.95[EUR][1000 genomes]
rs17123109	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17123138	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34400124	0.86[EUR][1000 genomes]
rs4146339	0.84[EUR][1000 genomes]
rs4146340	0.84[EUR][1000 genomes]
rs4760632	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760727	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56053566	0.84[ASN][1000 genomes]
rs56796388	0.87[EUR][1000 genomes]
rs58537022	0.81[AFR][1000 genomes]
rs61096762	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72644858	0.87[EUR][1000 genomes]
rs72644859	0.87[EUR][1000 genomes]
rs72644862	0.87[EUR][1000 genomes]
rs72644863	0.87[EUR][1000 genomes]
rs72644864	0.86[EUR][1000 genomes]
rs73298787	0.83[AFR][1000 genomes]
rs73298791	0.82[AFR][1000 genomes]
rs73298792	0.83[AFR][1000 genomes]
rs73300707	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300718	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73302549	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74087209	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090293	0.83[AFR][1000 genomes]
rs7967630	0.88[EUR][1000 genomes]
rs9788163	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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