Variant report

Variant	rs17518546
Chromosome Location	chr12:40504052-40504053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40404668..40405271-chr12:40503732..40504617,2	MCF-7	breast:
2	chr12:40471822..40473887-chr12:40503085..40505946,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10784340	0.82[EUR][1000 genomes]
rs10877913	0.84[EUR][1000 genomes]
rs10877955	0.86[EUR][1000 genomes]
rs10877971	0.86[EUR][1000 genomes]
rs10878123	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174831	0.86[EUR][1000 genomes]
rs11174928	0.86[EUR][1000 genomes]
rs11175102	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11175103	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11175256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11175332	0.83[ASN][1000 genomes]
rs11175371	0.84[ASN][1000 genomes]
rs11175401	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11175422	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11175540	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12372213	0.86[EUR][1000 genomes]
rs12581285	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491924	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17442157	0.86[EUR][1000 genomes]
rs17458156	0.86[EUR][1000 genomes]
rs17458613	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17461429	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253736	0.83[ASN][1000 genomes]
rs2638270	0.84[ASN][1000 genomes]
rs2708478	0.80[EUR][1000 genomes]
rs28365172	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28365179	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28365683	0.86[EUR][1000 genomes]
rs28370683	0.86[EUR][1000 genomes]
rs72644819	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949640	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1846566	chr12:40498683-40527395	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1838306	chr12:40499495-40527395	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40501200-40510200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:40501600-40504200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:40501600-40504400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:40501600-40504400	Weak transcription	NHDF-Ad	bronchial
5	chr12:40502600-40504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:40503200-40504800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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