Variant report

Variant	rs215394
Chromosome Location	chr12:47765869-47765870
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47763219..47766043-chr12:47768327..47771310,3	MCF-7	breast:
2	chr12:47763544..47766540-chr12:47781917..47783606,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11183910	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183911	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183912	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11183915	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183918	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183921	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183922	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183923	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183924	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183927	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12371209	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1642941	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs215343	0.85[CEU][hapmap];0.92[ASN][1000 genomes]
rs215352	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215353	1.00[ASN][1000 genomes]
rs215363	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215366	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215368	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215370	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215376	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215382	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215383	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215385	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215387	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs215390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215395	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs215396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927860	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61927894	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927895	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61927896	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61929787	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47762800-47771800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:47763200-47770800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:47763200-47772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47763200-47772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:47763400-47766200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:47765600-47766000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:47765800-47766200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:47765800-47766600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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