Variant report

Variant	rs72644846
Chromosome Location	chr12:48508283-48508284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48503414..48505504-chr12:48505942..48508291,3	K562	blood:
2	chr12:48498261..48500251-chr12:48508145..48510473,2	K562	blood:

Variant related genes	Relation type
ENSG00000152556	Chromatin interaction
ENSG00000079387	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10492080	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783230	0.92[ASN][1000 genomes]
rs10783231	0.81[ASN][1000 genomes]
rs10875751	0.89[ASN][1000 genomes]
rs11609399	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11613485	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11613781	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580764	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12581972	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1476608	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17122611	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17122612	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17122613	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17122651	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1968071	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3742074	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4075913	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4141065	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4293182	0.80[EUR][1000 genomes]
rs4589362	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4760620	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760683	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760685	0.93[ASN][1000 genomes]
rs57054831	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57380031	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57655233	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58046797	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58331734	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59766465	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60567660	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60681522	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6580653	0.89[ASN][1000 genomes]
rs6580656	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7133249	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs726354	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72644843	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72644844	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72644845	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72644847	0.91[EUR][1000 genomes]
rs7296913	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7312326	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7315258	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7485057	0.81[ASN][1000 genomes]
rs7485824	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs757556	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963934	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7969749	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7971668	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs879242	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72644846	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48501000-48508800	Weak transcription	K562	blood
2	chr12:48501200-48512200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:48505200-48512000	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links