Variant report

Variant	rs305993
Chromosome Location	chr19:41589648-41589649
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	NR3C1	chr19:41589554-41589739	A549	lung:	n/a	n/a
2	NR3C1	chr19:41589473-41589900	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41563480..41565776-chr19:41588166..41589708,2	MCF-7	breast:

Variant related genes	Relation type
CYP2A13	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1645690	0.84[EUR][1000 genomes]
rs1645696	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1645709	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1645712	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1709081	0.84[EUR][1000 genomes]
rs1709082	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1709083	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1709084	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1709085	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1709114	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1709115	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17713907	0.90[EUR][1000 genomes]
rs184247	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2458636	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2458638	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2548792	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28447222	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs305989	0.83[EUR][1000 genomes]
rs305990	0.87[EUR][1000 genomes]
rs305991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs305992	0.87[EUR][1000 genomes]
rs305995	0.87[EUR][1000 genomes]
rs305996	0.87[EUR][1000 genomes]
rs305997	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs305999	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117407	0.90[EUR][1000 genomes]
rs62117409	0.85[EUR][1000 genomes]
rs62117410	0.85[EUR][1000 genomes]
rs62117438	0.85[EUR][1000 genomes]
rs62117442	0.85[EUR][1000 genomes]
rs62117443	0.85[EUR][1000 genomes]
rs62117444	0.85[EUR][1000 genomes]
rs62117446	0.85[EUR][1000 genomes]
rs7246981	0.83[EUR][1000 genomes]
rs9917112	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1065684	chr19:41516389-41644542	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv2491	chr19:41560948-41604222	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr19:41586400-41594800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:41589400-41590000	Enhancers	HSMMtube	muscle

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