Variant report

Variant	rs11171986
Chromosome Location	chr12:57212827-57212828
allele	C/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	MAFK	chr12:57212494-57212845	HepG2	liver:	n/a	chr12:57212663-57212678 chr12:57212668-57212677 chr12:57212663-57212674 chr12:57212664-57212675 chr12:57212663-57212674 chr12:57212668-57212678
2	MAFK	chr12:57212496-57212850	HepG2	liver:	n/a	chr12:57212663-57212678 chr12:57212668-57212677 chr12:57212663-57212674 chr12:57212664-57212675 chr12:57212663-57212674 chr12:57212668-57212678
3	BACH1	chr12:57212433-57212859	K562	blood:	n/a	chr12:57212667-57212681
4	MAFK	chr12:57212407-57212853	H1-hESC	embryonic stem cell:	n/a	chr12:57212663-57212678 chr12:57212668-57212677 chr12:57212663-57212674 chr12:57212664-57212675 chr12:57212663-57212674 chr12:57212668-57212678
5	MAFK	chr12:57212483-57212850	K562	blood:	n/a	chr12:57212663-57212678 chr12:57212668-57212677 chr12:57212663-57212674 chr12:57212664-57212675 chr12:57212663-57212674 chr12:57212668-57212678
6	MAFF	chr12:57212504-57212854	HepG2	liver:	n/a	chr12:57212661-57212679
7	MAFF	chr12:57212488-57212848	K562	blood:	n/a	chr12:57212661-57212679
8	BACH1	chr12:57212440-57212906	H1-hESC	embryonic stem cell:	n/a	chr12:57212667-57212681

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57211985..57213673-chr12:57349961..57351583,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258679	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1026565	0.81[JPT][hapmap]
rs10459247	0.81[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10876928	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876931	0.83[GIH][hapmap]
rs11171979	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171980	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171983	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12229899	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12366897	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12367312	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12367339	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12367822	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12370142	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1466382	0.81[JPT][hapmap]
rs1870674	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1903370	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979325	0.86[JPT][hapmap]
rs2035081	0.81[JPT][hapmap]
rs2126068	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2290894	0.82[JPT][hapmap]
rs28564526	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2926741	0.81[JPT][hapmap]
rs2926743	0.85[JPT][hapmap];0.82[MEX][hapmap]
rs2958127	0.81[JPT][hapmap]
rs2958130	0.81[JPT][hapmap]
rs2958149	0.85[JPT][hapmap];0.82[MEX][hapmap]
rs2958153	0.88[MEX][hapmap]
rs3214051	0.81[JPT][hapmap]
rs4277148	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581102	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6581103	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581105	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6581107	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67808059	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7311381	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313074	0.85[JPT][hapmap];0.88[MEX][hapmap]
rs7315786	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7965581	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967600	0.81[JPT][hapmap]
rs7978685	0.85[JPT][hapmap];0.88[MEX][hapmap]
rs7980317	0.81[JPT][hapmap]
rs898609	0.82[JPT][hapmap]
rs898611	0.81[JPT][hapmap]
rs9634246	0.82[MEX][hapmap]
rs9706074	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9706160	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57211000-57213400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:57212800-57215200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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