Variant report

Variant	rs12322327
Chromosome Location	chr12:120707197-120707198
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
2	chr12:120703812..120708110-chr12:120710658..120713817,5	MCF-7	breast:
3	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1151821	0.91[ASN][1000 genomes]
rs1151822	0.87[ASN][1000 genomes]
rs1151823	0.95[ASN][1000 genomes]
rs1151826	0.95[ASN][1000 genomes]
rs1151828	0.95[ASN][1000 genomes]
rs1151833	0.95[ASN][1000 genomes]
rs1151835	0.95[ASN][1000 genomes]
rs1151836	0.95[ASN][1000 genomes]
rs1166788	0.95[ASN][1000 genomes]
rs1166789	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1179386	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12580333	0.90[ASN][1000 genomes]
rs1632619	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1634820	0.98[ASN][1000 genomes]
rs2239207	0.95[ASN][1000 genomes]
rs2283363	0.90[ASN][1000 genomes]
rs2701641	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58777856	0.90[ASN][1000 genomes]
rs58919380	0.95[ASN][1000 genomes]
rs60134107	0.95[ASN][1000 genomes]
rs60282545	0.90[ASN][1000 genomes]
rs61633133	0.95[ASN][1000 genomes]
rs71541558	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120704000-120721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:120704400-120714400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:120704600-120714200	Weak transcription	Placenta	Placenta
4	chr12:120705800-120707400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:120706400-120715800	Weak transcription	Liver	Liver

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