Variant report

Variant	rs2089222
Chromosome Location	chr12:117002658-117002659
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	chr12:116999859..117002706-chr12:117013577..117016502,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171471	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10774871	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10774872	0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10850662	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10850663	0.88[ASN][1000 genomes]
rs11068062	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11068070	0.90[ASN][1000 genomes]
rs11068075	0.96[ASN][1000 genomes]
rs11609040	0.88[ASN][1000 genomes]
rs11609872	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11610226	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11615960	0.82[ASN][1000 genomes]
rs1394801	0.82[ASN][1000 genomes]
rs1394802	0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2047952	0.90[ASN][1000 genomes]
rs2102294	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.90[ASN][1000 genomes]
rs2893685	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60521218	0.88[ASN][1000 genomes]
rs6490075	0.87[ASN][1000 genomes]
rs6490076	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7297552	0.90[ASN][1000 genomes]
rs7300418	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7304300	0.90[ASN][1000 genomes]
rs7315385	0.90[ASN][1000 genomes]
rs7954181	0.81[ASN][1000 genomes]
rs7961538	0.88[ASN][1000 genomes]
rs7969190	0.83[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7969566	0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7972701	0.90[ASN][1000 genomes]
rs7976256	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040904	chr12:116999897-117033944	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Acute lymphoblastic leukemia (childhood)	19684603	GWAS catalog

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117001200-117003600	ZNF genes & repeats	Dnd41	blood
2	chr12:117001400-117003800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:117002000-117002800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr12:117002400-117005000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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