Variant report

Variant	rs2456522
Chromosome Location	chr15:53085718-53085719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10518694	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2120450	0.88[EUR][1000 genomes]
rs2243790	0.93[EUR][1000 genomes]
rs2440317	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2440322	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2440376	0.96[EUR][1000 genomes]
rs2456507	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2456524	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2456525	0.96[EUR][1000 genomes]
rs2456526	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2456529	0.93[EUR][1000 genomes]
rs2456530	0.88[EUR][1000 genomes]
rs2456532	0.96[EUR][1000 genomes]
rs28475375	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60065065	0.97[EUR][1000 genomes]
rs7180600	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv457142	chr15:53041887-53091896	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv569427	chr15:53041887-53091896	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	nsv1046970	chr15:53065114-53142386	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
6	nsv569428	chr15:53069874-53140045	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53083600-53088400	Weak transcription	Pancreas	Pancrea
2	chr15:53083600-53088600	Weak transcription	Liver	Liver
3	chr15:53084000-53086800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr15:53084000-53086800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr15:53084000-53086800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr15:53084200-53086200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr15:53084200-53086600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr15:53084200-53086800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr15:53084200-53086800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:53085000-53086600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
11	chr15:53085400-53086000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr15:53085600-53085800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr15:53085600-53086000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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