Variant report

Variant	rs4964632
Chromosome Location	chr12:104583237-104583238
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	chr12:104577047..104579321-chr12:104581007..104583445,2	MCF-7	breast:
2	chr12:104581580..104584541-chr12:105258858..105261291,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10507174	0.82[AMR][1000 genomes]
rs10507175	0.80[AMR][1000 genomes]
rs11111898	0.82[AMR][1000 genomes]
rs11111943	0.84[AMR][1000 genomes]
rs12423684	0.82[AMR][1000 genomes]
rs12426862	0.80[AMR][1000 genomes]
rs12582966	0.80[AMR][1000 genomes]
rs17035324	0.81[ASN][1000 genomes]
rs35142441	0.82[AMR][1000 genomes]
rs4129598	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4246264	0.84[AMR][1000 genomes]
rs4388968	0.84[AMR][1000 genomes]
rs4545635	0.84[AMR][1000 genomes]
rs4614534	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964226	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4964257	0.84[AMR][1000 genomes]
rs4964260	0.84[AMR][1000 genomes]
rs4964627	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61939190	0.82[AMR][1000 genomes]
rs61939192	0.82[AMR][1000 genomes]
rs61939221	0.92[ASN][1000 genomes]
rs61939222	1.00[ASN][1000 genomes]
rs6419386	0.84[AMR][1000 genomes]
rs6539128	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7132418	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7138317	0.80[AMR][1000 genomes]
rs7299866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7305872	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73177991	0.82[AMR][1000 genomes]
rs7957723	0.87[ASN][1000 genomes]
rs7957725	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7978101	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104578200-104583600	Weak transcription	Osteobl	bone
2	chr12:104582000-104583400	Weak transcription	Placenta	Placenta
3	chr12:104582000-104583600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:104582000-104583800	Weak transcription	A549	lung

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