Variant report

Variant	rs12515493
Chromosome Location	chr5:57047762-57047763
allele	G/T
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	CEBPB	chr5:57047677-57047814	Hela-S3	cervix:	n/a	chr5:57047784-57047793 chr5:57047784-57047793
2	CEBPB	chr5:57047629-57047920	A549	lung:	n/a	chr5:57047784-57047793 chr5:57047784-57047793

Variant related genes	Relation type
ENSG00000249198	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10447121	1.00[CEU][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10940574	0.81[EUR][1000 genomes]
rs10940578	0.87[EUR][1000 genomes]
rs12186536	0.87[EUR][1000 genomes]
rs12514617	0.81[EUR][1000 genomes]
rs12514618	0.81[EUR][1000 genomes]
rs12515736	0.82[EUR][1000 genomes]
rs12517238	0.90[EUR][1000 genomes]
rs12517867	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12520466	0.80[EUR][1000 genomes]
rs12522697	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1432482	0.86[EUR][1000 genomes]
rs1544621	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17689645	0.80[EUR][1000 genomes]
rs17689832	0.82[EUR][1000 genomes]
rs17690351	0.90[EUR][1000 genomes]
rs17690411	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs17746879	0.90[EUR][1000 genomes]
rs17746968	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs2160057	0.82[EUR][1000 genomes]
rs2160058	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2192367	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2192368	0.82[EUR][1000 genomes]
rs56830694	0.87[EUR][1000 genomes]
rs57200729	0.90[EUR][1000 genomes]
rs58610852	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58632739	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358372	0.81[EUR][1000 genomes]
rs62358374	0.81[EUR][1000 genomes]
rs62358380	0.82[EUR][1000 genomes]
rs62358381	0.83[EUR][1000 genomes]
rs6450432	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450433	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450434	1.00[CEU][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450435	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450437	0.93[EUR][1000 genomes]
rs6870485	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6878042	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs6891648	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894375	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs72751313	0.90[EUR][1000 genomes]
rs72751317	0.90[EUR][1000 genomes]
rs72751318	0.90[EUR][1000 genomes]
rs72751323	0.88[EUR][1000 genomes]
rs72767430	0.80[EUR][1000 genomes]
rs72767434	0.82[EUR][1000 genomes]
rs72767441	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72767444	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs741181	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7718447	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57042600-57048600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:57042600-57050200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:57045400-57054800	Weak transcription	Pancreas	Pancrea
4	chr5:57045800-57047800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:57046000-57048600	Weak transcription	HMEC	breast
6	chr5:57046000-57049600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:57046000-57050200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:57046000-57050800	Weak transcription	Osteobl	bone
9	chr5:57047200-57051200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:57047400-57048000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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