Variant report

Variant	rs2114322
Chromosome Location	chr12:48951607-48951608
allele	A/G
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	EP300	chr12:48951478-48951952	K562	blood:	n/a	chr12:48951622-48951630

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48950749..48953100-chr12:48955040..48956602,2	K562	blood:

Variant related genes	Relation type
OR5BS1P	TF binding region

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10875827	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875829	0.89[EUR][1000 genomes]
rs10875833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168599	0.92[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs11168618	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168619	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11458	0.92[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs12371700	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs12815544	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2731091	1.00[JPT][hapmap]
rs2731094	1.00[JPT][hapmap]
rs2731102	1.00[JPT][hapmap]
rs4359253	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6580671	0.93[CEU][hapmap]
rs7302209	0.89[EUR][1000 genomes]
rs7312017	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7958521	0.93[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7972785	0.81[EUR][1000 genomes]
rs7974213	0.85[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs7976324	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7980421	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1047600	chr12:48927514-48954225	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1048307	chr12:48927514-48958949	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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