Variant report

Variant	rs8050120
Chromosome Location	chr16:48235577-48235578
allele	C/G
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	chr16:48235546-48236026	HL-60	blood:	n/a	chr16:48235817-48235826

Variant related genes	Relation type
ABCC11	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10163354	1.00[ASN][1000 genomes]
rs10163462	1.00[ASN][1000 genomes]
rs10221107	0.88[CEU][hapmap]
rs11076565	0.88[CEU][hapmap]
rs11552148	0.88[CEU][hapmap]
rs11861031	1.00[ASN][1000 genomes]
rs11861127	0.84[ASN][1000 genomes]
rs11863133	0.93[ASN][1000 genomes]
rs11863233	0.93[ASN][1000 genomes]
rs11863236	0.93[ASN][1000 genomes]
rs11863325	1.00[ASN][1000 genomes]
rs11866251	1.00[ASN][1000 genomes]
rs11866312	0.93[ASN][1000 genomes]
rs11866529	0.88[CEU][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12149230	0.81[EUR][1000 genomes]
rs13336264	0.89[CEU][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1545942	0.84[CEU][hapmap]
rs16945916	1.00[ASN][1000 genomes]
rs16945917	1.00[ASN][1000 genomes]
rs16945919	1.00[ASN][1000 genomes]
rs16945972	0.93[ASN][1000 genomes]
rs16945974	0.85[ASN][1000 genomes]
rs16946038	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs16946039	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs17743256	1.00[ASN][1000 genomes]
rs28376623	0.93[ASN][1000 genomes]
rs28378550	0.80[EUR][1000 genomes]
rs28503414	0.93[ASN][1000 genomes]
rs28605399	0.85[ASN][1000 genomes]
rs28617382	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs28626252	0.93[ASN][1000 genomes]
rs28654935	0.93[ASN][1000 genomes]
rs28684834	0.93[ASN][1000 genomes]
rs28696036	0.93[ASN][1000 genomes]
rs41280939	1.00[ASN][1000 genomes]
rs5017203	0.93[ASN][1000 genomes]
rs57912486	1.00[ASN][1000 genomes]
rs58409512	0.85[EUR][1000 genomes]
rs60745528	0.80[EUR][1000 genomes]
rs60760669	0.80[EUR][1000 genomes]
rs62058521	1.00[ASN][1000 genomes]
rs62058522	1.00[ASN][1000 genomes]
rs62058526	1.00[ASN][1000 genomes]
rs62058528	1.00[ASN][1000 genomes]
rs6500339	0.92[ASN][1000 genomes]
rs6500385	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs7184831	1.00[ASN][1000 genomes]
rs7186777	0.80[EUR][1000 genomes]
rs7187233	0.94[CEU][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191844	1.00[ASN][1000 genomes]
rs7203695	0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7206909	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73540901	0.93[ASN][1000 genomes]
rs73542903	0.93[ASN][1000 genomes]
rs73542904	0.93[ASN][1000 genomes]
rs73546434	0.85[ASN][1000 genomes]
rs73546437	0.85[ASN][1000 genomes]
rs73546439	0.85[ASN][1000 genomes]
rs73562063	0.80[EUR][1000 genomes]
rs74018298	0.92[ASN][1000 genomes]
rs74018300	1.00[ASN][1000 genomes]
rs8045819	0.80[EUR][1000 genomes]
rs8046408	0.88[CEU][hapmap]
rs8046814	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8047091	0.88[CEU][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8047397	0.85[ASN][1000 genomes]
rs8048098	0.84[CEU][hapmap]
rs8051016	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8051186	0.80[EUR][1000 genomes]
rs8051205	0.88[CEU][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8051441	0.88[CEU][hapmap]
rs8054314	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs8055028	0.88[CEU][hapmap]
rs8055128	0.85[ASN][1000 genomes]
rs8056100	0.85[ASN][1000 genomes]
rs8056143	0.85[ASN][1000 genomes]
rs8056846	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs8057475	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8060696	0.85[ASN][1000 genomes]
rs8060722	0.85[ASN][1000 genomes]
rs8190	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs9302758	0.88[CEU][hapmap]
rs957881	1.00[ASN][1000 genomes]
rs9925772	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs9932850	0.82[CEU][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9938523	0.84[EUR][1000 genomes]
rs9940038	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8050120	LONP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48230200-48240400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:48234400-48237400	Weak transcription	Fetal Intestine Small	intestine
3	chr16:48235400-48236000	Enhancers	Stomach Mucosa	stomach
4	chr16:48235400-48236200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:48235400-48236800	Enhancers	Adipose Nuclei	Adipose
6	chr16:48235400-48237200	Enhancers	Pancreas	Pancrea
7	chr16:48235400-48238000	Enhancers	HepG2	liver
8	chr16:48235400-48238800	Enhancers	Liver	Liver

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