Variant report

Variant	rs2125762
Chromosome Location	chr5:27275646-27275647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:27273803..27275976-chr5:27278009..27280020,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1026764	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110293	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509120	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34372144	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340884	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4407597	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527564	1.00[JPT][hapmap]
rs62346496	1.00[ASN][1000 genomes]
rs62346497	1.00[ASN][1000 genomes]
rs62346498	1.00[ASN][1000 genomes]
rs62346499	1.00[ASN][1000 genomes]
rs62346500	1.00[ASN][1000 genomes]
rs62346501	1.00[ASN][1000 genomes]
rs62346502	1.00[ASN][1000 genomes]
rs62346503	1.00[ASN][1000 genomes]
rs62346557	1.00[ASN][1000 genomes]
rs67288216	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67301485	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729012	1.00[ASN][1000 genomes]
rs72729014	1.00[ASN][1000 genomes]
rs72729015	1.00[ASN][1000 genomes]
rs72729016	1.00[ASN][1000 genomes]
rs72729018	1.00[ASN][1000 genomes]
rs72742714	1.00[ASN][1000 genomes]
rs72744611	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744614	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72744616	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744624	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744628	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744629	0.97[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	nsv868856	chr5:26789778-27321390	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv3450425	chr5:27134073-27323407	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv881286	chr5:27135351-27770554	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv880298	chr5:27193573-27659111	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv880326	chr5:27193573-27743375	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv881387	chr5:27264941-27373862	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27275600-27276200	Enhancers	Fetal Heart	heart

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