Variant report

Variant	rs17489985
Chromosome Location	chr12:40541456-40541457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:40541064-40541566	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260943	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10747955	1.00[ASN][1000 genomes]
rs10747959	1.00[ASN][1000 genomes]
rs10784283	1.00[ASN][1000 genomes]
rs11564118	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564120	1.00[ASN][1000 genomes]
rs11564122	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564132	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564226	1.00[ASN][1000 genomes]
rs11564274	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11564275	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099949	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497046	1.00[ASN][1000 genomes]
rs1497048	1.00[ASN][1000 genomes]
rs1566127	1.00[ASN][1000 genomes]
rs17442665	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442735	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442812	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458341	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458836	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458974	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17465428	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132745	1.00[ASN][1000 genomes]
rs2132746	1.00[ASN][1000 genomes]
rs2404351	1.00[ASN][1000 genomes]
rs28370599	1.00[ASN][1000 genomes]
rs2952711	0.86[EUR][1000 genomes]
rs34714539	1.00[ASN][1000 genomes]
rs35985096	1.00[ASN][1000 genomes]
rs4768196	1.00[ASN][1000 genomes]
rs4768202	1.00[ASN][1000 genomes]
rs6581438	1.00[ASN][1000 genomes]
rs6581439	1.00[ASN][1000 genomes]
rs7135678	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138075	1.00[ASN][1000 genomes]
rs7138078	1.00[ASN][1000 genomes]
rs71449744	1.00[ASN][1000 genomes]
rs7300161	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305155	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305994	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74088117	1.00[ASN][1000 genomes]
rs7959787	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937385	1.00[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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3379462	chr12:40539260-40541633	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40532800-40543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40541000-40541800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:40541400-40546600	Weak transcription	Primary monocytes fromperipheralblood	blood

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