Variant report

Variant	rs57439008
Chromosome Location	chr12:46893011-46893012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46763895..46766818-chr12:46891074..46893864,2	MCF-7	breast:
2	chr12:46887030..46889872-chr12:46892727..46894834,3	MCF-7	breast:
3	chr12:46765216..46767739-chr12:46890093..46894226,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10785631	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10880975	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880976	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880977	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880980	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183497	0.81[EUR][1000 genomes]
rs11183507	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183536	0.87[AMR][1000 genomes]
rs11504523	1.00[EUR][1000 genomes]
rs11829502	0.84[EUR][1000 genomes]
rs11830099	0.82[EUR][1000 genomes]
rs11830501	0.82[EUR][1000 genomes]
rs11831177	1.00[EUR][1000 genomes]
rs11831920	0.82[EUR][1000 genomes]
rs11831929	0.82[EUR][1000 genomes]
rs11832316	0.82[EUR][1000 genomes]
rs11835517	0.82[EUR][1000 genomes]
rs11835974	0.82[EUR][1000 genomes]
rs11836915	0.85[EUR][1000 genomes]
rs11836940	0.82[EUR][1000 genomes]
rs11837104	0.82[EUR][1000 genomes]
rs12300125	0.90[AMR][1000 genomes]
rs12303824	0.81[EUR][1000 genomes]
rs12579348	0.82[EUR][1000 genomes]
rs12579976	0.82[EUR][1000 genomes]
rs12580121	0.89[EUR][1000 genomes]
rs17096995	0.82[EUR][1000 genomes]
rs17097009	0.82[EUR][1000 genomes]
rs17097022	0.82[EUR][1000 genomes]
rs17121412	0.82[EUR][1000 genomes]
rs1946175	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2193662	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2193663	0.82[EUR][1000 genomes]
rs2408576	0.82[EUR][1000 genomes]
rs2408577	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2430940	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2430946	0.82[EUR][1000 genomes]
rs2471581	0.85[EUR][1000 genomes]
rs2471583	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2471601	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4073924	0.85[EUR][1000 genomes]
rs4604970	0.82[EUR][1000 genomes]
rs4768125	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4768731	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56152575	0.82[EUR][1000 genomes]
rs56181923	0.82[EUR][1000 genomes]
rs56271434	0.82[EUR][1000 genomes]
rs56399247	0.85[EUR][1000 genomes]
rs57158113	0.85[EUR][1000 genomes]
rs58449317	0.82[EUR][1000 genomes]
rs58503088	0.82[EUR][1000 genomes]
rs58813899	0.82[EUR][1000 genomes]
rs59521025	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59903937	0.82[EUR][1000 genomes]
rs60432604	0.85[EUR][1000 genomes]
rs60669661	0.82[EUR][1000 genomes]
rs60681792	0.82[EUR][1000 genomes]
rs6582666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138914	0.82[EUR][1000 genomes]
rs7295471	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7302876	0.84[EUR][1000 genomes]
rs7308386	0.82[EUR][1000 genomes]
rs73290364	0.96[EUR][1000 genomes]
rs73290381	0.85[EUR][1000 genomes]
rs73290402	0.82[EUR][1000 genomes]
rs73291964	0.82[EUR][1000 genomes]
rs73291976	0.82[EUR][1000 genomes]
rs73291980	0.82[EUR][1000 genomes]
rs73292000	0.82[EUR][1000 genomes]
rs73293911	0.82[EUR][1000 genomes]
rs73293919	0.82[EUR][1000 genomes]
rs74085431	1.00[EUR][1000 genomes]
rs765707	0.82[EUR][1000 genomes]
rs7976710	0.82[EUR][1000 genomes]
rs9783500	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 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	chr12:46882800-46894200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:46888600-46909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:46888800-46893800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:46889000-46895400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:46889000-46897400	Weak transcription	HSMM	muscle
6	chr12:46890800-46899600	Weak transcription	NH-A	brain
7	chr12:46892600-46893400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:46892800-46893400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:46893000-46893400	Enhancers	Osteobl	bone

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