Variant report

Variant	rs12227117
Chromosome Location	chr12:57166413-57166414
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57161853..57164253-chr12:57165947..57168097,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1026565	0.86[ASN][1000 genomes]
rs10459246	0.95[ASN][1000 genomes]
rs10459247	0.82[EUR][1000 genomes]
rs10747770	0.88[ASN][1000 genomes]
rs10783796	0.82[ASN][1000 genomes]
rs10876918	0.86[ASN][1000 genomes]
rs11171951	0.82[ASN][1000 genomes]
rs11171956	0.81[ASN][1000 genomes]
rs1131514	0.86[ASN][1000 genomes]
rs12828563	0.82[ASN][1000 genomes]
rs1466382	0.82[ASN][1000 genomes]
rs1975875	0.86[ASN][1000 genomes]
rs1979325	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2035081	0.82[ASN][1000 genomes]
rs2035082	0.82[ASN][1000 genomes]
rs2290894	0.82[ASN][1000 genomes]
rs2926741	0.80[ASN][1000 genomes]
rs2926743	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926748	0.82[ASN][1000 genomes]
rs2958127	0.82[ASN][1000 genomes]
rs2958130	0.86[ASN][1000 genomes]
rs2958132	0.86[ASN][1000 genomes]
rs2958148	0.80[ASN][1000 genomes]
rs2958149	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2958153	0.89[AMR][1000 genomes]
rs3214051	0.80[ASN][1000 genomes]
rs4759256	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902	0.82[ASN][1000 genomes]
rs7295862	0.94[ASN][1000 genomes]
rs7313074	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7966391	0.83[ASN][1000 genomes]
rs7967600	0.88[ASN][1000 genomes]
rs7978685	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7980317	0.88[ASN][1000 genomes]
rs898609	0.82[ASN][1000 genomes]
rs898611	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv826382	chr12:57151464-57208607	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57156400-57179400	Weak transcription	Spleen	Spleen
2	chr12:57157800-57171000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:57158600-57179200	Weak transcription	HSMMtube	muscle
4	chr12:57160400-57168400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:57160800-57179400	Weak transcription	Lung	lung
6	chr12:57164800-57179200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:57165200-57166600	Enhancers	Liver	Liver
8	chr12:57166000-57169400	Weak transcription	Monocytes-CD14+_RO01746	blood

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