Variant report

Variant	rs12443420
Chromosome Location	chr15:73097404-73097405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73075592..73077961-chr15:73095620..73098045,2	MCF-7	breast:
2	chr15:73095643..73098434-chr15:73099404..73102029,2	K562	blood:
3	chr15:73088223..73090036-chr15:73095674..73097846,2	K562	blood:
4	chr15:73074471..73077912-chr15:73094314..73098768,4	MCF-7	breast:
5	chr15:73090912..73092510-chr15:73095226..73098076,2	K562	blood:
6	chr15:73095998..73099016-chr15:73347374..73350745,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159322	Chromatin interaction
ENSG00000260898	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12439375	0.83[ASN][1000 genomes]
rs12594060	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12594667	0.81[ASN][1000 genomes]
rs1593508	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16957315	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278543	0.80[ASN][1000 genomes]
rs2415166	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3850987	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4776616	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4777540	0.83[ASN][1000 genomes]
rs4777543	0.83[ASN][1000 genomes]
rs4777545	0.84[ASN][1000 genomes]
rs4777560	0.80[EUR][1000 genomes]
rs56915357	0.84[ASN][1000 genomes]
rs58232781	0.89[ASN][1000 genomes]
rs60305148	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61632994	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62017623	0.83[ASN][1000 genomes]
rs6495021	0.80[EUR][1000 genomes]
rs7495022	0.85[ASN][1000 genomes]
rs8032586	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73097200-73097600	Bivalent/Poised TSS	HepG2	liver
2	chr15:73097200-73098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:73097200-73098600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr15:73097200-73098600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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