Variant report

Variant	rs215352
Chromosome Location	chr12:47736198-47736199
allele	C/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	chr12:47736146-47736240	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258116	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183910	0.92[ASN][1000 genomes]
rs11183915	0.92[ASN][1000 genomes]
rs11183918	1.00[ASN][1000 genomes]
rs11183921	1.00[ASN][1000 genomes]
rs11183922	1.00[ASN][1000 genomes]
rs11183923	1.00[ASN][1000 genomes]
rs11183924	0.92[ASN][1000 genomes]
rs11183927	0.92[ASN][1000 genomes]
rs215343	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs215348	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs215350	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs215351	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs215353	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215354	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs215358	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs215360	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215362	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215363	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215366	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215368	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215370	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215371	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215376	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215377	0.81[AMR][1000 genomes]
rs215382	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215383	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215385	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215387	0.81[EUR][1000 genomes]
rs215390	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215393	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215394	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215396	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927860	0.92[ASN][1000 genomes]
rs61927894	1.00[ASN][1000 genomes]
rs61929787	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv983319	chr12:47734799-47738693	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47723200-47742200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47734600-47737400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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