Variant report

Variant	rs71462955
Chromosome Location	chr12:47722346-47722347
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	chr12:47717481..47720198-chr12:47722159..47724714,2	K562	blood:
2	chr12:47719707..47722473-chr12:47723934..47726581,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183848	0.84[AMR][1000 genomes]
rs11183849	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183850	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183851	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183852	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183853	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183854	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183855	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183856	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183857	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183858	0.94[EUR][1000 genomes]
rs11183870	0.83[ASN][1000 genomes]
rs12228428	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12230585	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12815928	0.81[AFR][1000 genomes]
rs34187987	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35521464	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35839210	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36059508	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4768796	0.83[ASN][1000 genomes]
rs4768797	0.83[ASN][1000 genomes]
rs4768799	0.83[ASN][1000 genomes]
rs71462954	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71462956	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71462957	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71462958	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71462959	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71462960	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71462961	0.92[AMR][1000 genomes];0.88[EUR][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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47709200-47727000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:47717800-47722600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:47721800-47723600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:47722000-47722800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:47722000-47723600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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