Variant report

Variant	rs57096261
Chromosome Location	chr12:42663398-42663399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42630764..42634412-chr12:42661858..42664112,3	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000015153	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1079985	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17090974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17090988	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091121	0.87[AFR][1000 genomes]
rs1982507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55699566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56000886	0.85[AFR][1000 genomes]
rs56126783	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56183709	1.00[AMR][1000 genomes]
rs56315321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56400220	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56404347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58745493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60164617	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60635137	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078011	1.00[AMR][1000 genomes]
rs74078049	0.87[AFR][1000 genomes]
rs74078160	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078165	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078173	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078174	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078176	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078179	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078180	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078194	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079127	0.85[AFR][1000 genomes]
rs74081009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081065	0.97[AFR][1000 genomes];1.00[AMR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3397788	chr12:42636734-42665519	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 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	chr12:42659600-42667800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:42662000-42667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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