Variant report

Variant	rs4964270
Chromosome Location	chr12:104652398-104652399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104645845..104648288-chr12:104651801..104654759,2	K562	blood:
2	chr12:104647499..104652832-chr12:104679215..104682822,7	K562	blood:
3	chr12:104648960..104654527-chr12:104679132..104682678,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10400561	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10745994	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10745995	0.81[ASN][1000 genomes]
rs10745996	0.81[ASN][1000 genomes]
rs10778310	0.82[ASN][1000 genomes]
rs10861181	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11111943	0.95[ASN][1000 genomes]
rs11111955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314235	0.94[AFR][1000 genomes]
rs17035324	0.87[ASN][1000 genomes]
rs4129598	0.87[ASN][1000 genomes]
rs4246264	0.95[ASN][1000 genomes]
rs4388968	0.95[ASN][1000 genomes]
rs4406890	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4545635	0.95[ASN][1000 genomes]
rs4964257	0.95[ASN][1000 genomes]
rs4964260	0.95[ASN][1000 genomes]
rs4964267	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4964271	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4964728	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4964741	0.81[ASN][1000 genomes]
rs4964752	0.81[ASN][1000 genomes]
rs4964761	0.81[ASN][1000 genomes]
rs6419386	0.86[ASN][1000 genomes]
rs6539128	0.87[ASN][1000 genomes]
rs6539132	0.88[EUR][1000 genomes]
rs7138035	0.81[ASN][1000 genomes]
rs7138317	1.00[ASN][1000 genomes]
rs7294997	0.81[ASN][1000 genomes]
rs7295413	0.96[ASN][1000 genomes]
rs7297560	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7305872	0.89[ASN][1000 genomes]
rs7958851	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960443	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7975161	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7978101	0.87[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	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
2	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
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104649800-104657200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:104651000-104652800	Enhancers	A549	lung
3	chr12:104651400-104653000	Enhancers	Stomach Mucosa	stomach
4	chr12:104652000-104652800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
6	chr12:104652200-104652800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:104652200-104652800	Enhancers	NHEK	skin

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