Variant report

Variant	rs8046814
Chromosome Location	chr16:48241548-48241549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48240601..48242783-chr16:48255391..48257928,2	K562	blood:

Variant related genes	Relation type
ENSG00000121270	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10048092	0.82[AMR][1000 genomes]
rs10163354	0.93[ASN][1000 genomes]
rs10163462	0.93[ASN][1000 genomes]
rs10221107	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11076561	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11076562	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11076565	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11552148	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11860789	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11861031	0.93[ASN][1000 genomes]
rs11863133	0.86[ASN][1000 genomes]
rs11863233	0.86[ASN][1000 genomes]
rs11863236	0.86[ASN][1000 genomes]
rs11863325	0.93[ASN][1000 genomes]
rs11866251	0.93[ASN][1000 genomes]
rs11866312	0.86[ASN][1000 genomes]
rs11866529	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103095	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12149230	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12149393	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13330082	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13330105	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13331250	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13336264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13336771	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13338978	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1386053	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1545942	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16945916	0.93[ASN][1000 genomes]
rs16945917	0.93[ASN][1000 genomes]
rs16945919	0.93[ASN][1000 genomes]
rs16945972	0.86[ASN][1000 genomes]
rs16946038	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16946039	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17743256	0.93[ASN][1000 genomes]
rs1843647	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28376623	0.86[ASN][1000 genomes]
rs28378550	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28470315	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28503414	0.86[ASN][1000 genomes]
rs28617382	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28626252	0.86[ASN][1000 genomes]
rs28654935	0.86[ASN][1000 genomes]
rs28684834	0.86[ASN][1000 genomes]
rs28696036	0.86[ASN][1000 genomes]
rs28716153	0.82[AMR][1000 genomes]
rs28718435	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28823370	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34135802	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41280939	0.93[ASN][1000 genomes]
rs4528570	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5017203	1.00[ASN][1000 genomes]
rs56385363	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56829365	0.85[EUR][1000 genomes]
rs57912486	0.93[ASN][1000 genomes]
rs58409512	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59916796	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60745528	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60760669	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61122640	0.86[EUR][1000 genomes]
rs61676712	0.83[AMR][1000 genomes]
rs62058521	0.93[ASN][1000 genomes]
rs62058522	0.93[ASN][1000 genomes]
rs62058526	0.93[ASN][1000 genomes]
rs62058528	0.93[ASN][1000 genomes]
rs6500339	0.85[ASN][1000 genomes]
rs6500385	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7184831	0.93[ASN][1000 genomes]
rs7186777	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7187233	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7191844	0.93[ASN][1000 genomes]
rs7203695	0.93[ASN][1000 genomes]
rs7206909	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73540901	0.86[ASN][1000 genomes]
rs73542903	0.86[ASN][1000 genomes]
rs73542904	0.86[ASN][1000 genomes]
rs73562063	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74018298	0.85[ASN][1000 genomes]
rs74018300	0.93[ASN][1000 genomes]
rs8043803	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8045819	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8046408	0.87[EUR][1000 genomes]
rs8047091	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8048098	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8050120	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8051016	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051186	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8051205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051441	0.88[EUR][1000 genomes]
rs8054314	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8055028	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8055764	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8056846	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8057475	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8060780	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8190	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9302757	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9302758	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs957881	0.93[ASN][1000 genomes]
rs9924184	0.82[AMR][1000 genomes]
rs9924497	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9925591	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9925772	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9925935	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9926363	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9931294	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9932850	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932964	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9933211	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9938003	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9938523	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

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
rs8046814	LONP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48239400-48245800	Weak transcription	Right Atrium	heart
2	chr16:48239600-48241600	Enhancers	HepG2	liver
3	chr16:48239600-48250000	Weak transcription	Pancreas	Pancrea
4	chr16:48240400-48241800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:48240800-48241800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:48241000-48245800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:48241200-48243400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:48241200-48244000	Weak transcription	Liver	Liver
9	chr16:48241200-48244400	Weak transcription	HMEC	breast
10	chr16:48241400-48243800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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