Variant report

Variant	rs73224325
Chromosome Location	chr12:121361932-121361933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121358068..121359708-chr12:121361498..121363988,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10160872	0.87[EUR][1000 genomes]
rs10431373	0.86[ASN][1000 genomes]
rs10774569	0.83[EUR][1000 genomes]
rs10774570	0.84[EUR][1000 genomes]
rs10774573	0.87[EUR][1000 genomes]
rs10849794	0.87[EUR][1000 genomes]
rs10849803	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849805	0.84[EUR][1000 genomes]
rs10849806	0.84[EUR][1000 genomes]
rs10849808	0.86[ASN][1000 genomes]
rs10849809	0.86[ASN][1000 genomes]
rs10849810	0.84[EUR][1000 genomes]
rs10849811	0.87[EUR][1000 genomes]
rs10849812	0.86[EUR][1000 genomes]
rs10849813	0.87[EUR][1000 genomes]
rs10849814	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849817	0.97[ASN][1000 genomes]
rs11065298	0.84[EUR][1000 genomes]
rs11065313	0.86[EUR][1000 genomes]
rs11065319	0.87[EUR][1000 genomes]
rs11065320	0.87[EUR][1000 genomes]
rs11065321	0.87[EUR][1000 genomes]
rs11065322	0.87[EUR][1000 genomes]
rs11065331	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12310161	0.93[EUR][1000 genomes]
rs12423697	0.87[EUR][1000 genomes]
rs2049211	0.84[EUR][1000 genomes]
rs2393718	0.83[EUR][1000 genomes]
rs3809314	0.87[EUR][1000 genomes]
rs56137011	0.87[EUR][1000 genomes]
rs56161401	0.87[EUR][1000 genomes]
rs7131886	0.93[EUR][1000 genomes]
rs7139145	0.87[EUR][1000 genomes]
rs7298639	0.87[EUR][1000 genomes]
rs7306083	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7316450	0.84[EUR][1000 genomes]
rs73229156	0.87[EUR][1000 genomes]
rs7954254	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121343000-121362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121360400-121362800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:121360600-121362800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:121360600-121362800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:121360800-121363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:121361600-121362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:121361800-121363000	Weak transcription	Esophagus	oesophagus
8	chr12:121361800-121363000	Weak transcription	NHEK	skin
9	chr12:121361800-121363200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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