Variant report

Variant	rs4776219
Chromosome Location	chr15:54566323-54566324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10851563	0.92[AFR][1000 genomes]
rs11071065	0.92[CEU][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11071066	0.92[CEU][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs11630366	0.88[CEU][hapmap];0.83[GIH][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs11630766	0.91[CEU][hapmap]
rs11635242	0.92[AFR][1000 genomes]
rs11635437	0.92[CEU][hapmap]
rs11638408	0.82[EUR][1000 genomes]
rs11638986	0.84[EUR][1000 genomes]
rs12439702	0.88[CEU][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs12441013	0.84[CEU][hapmap]
rs12900325	0.88[EUR][1000 genomes]
rs12902524	0.96[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs12903297	0.92[CEU][hapmap];0.81[MKK][hapmap];0.84[EUR][1000 genomes]
rs12903779	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs12908083	0.96[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs12912246	0.83[EUR][1000 genomes]
rs12913239	0.83[EUR][1000 genomes]
rs12914912	0.92[CEU][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12915061	0.83[EUR][1000 genomes]
rs12916984	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs12917198	0.96[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs12917364	0.84[EUR][1000 genomes]
rs2414285	0.88[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs2414288	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4144949	0.92[CEU][hapmap];0.87[TSI][hapmap]
rs4517736	0.96[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs4774691	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4776216	0.84[CEU][hapmap]
rs4776220	0.96[CEU][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs4776222	1.00[ASW][hapmap];0.88[CEU][hapmap];0.92[LWK][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs5025252	1.00[ASW][hapmap];0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap];0.89[TSI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs5027653	0.91[EUR][1000 genomes]
rs62011998	0.85[ASN][1000 genomes]
rs6493669	0.88[CEU][hapmap]
rs6493670	0.85[ASW][hapmap];0.88[CEU][hapmap];0.85[GIH][hapmap];0.92[LWK][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs6493674	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7162346	0.83[CEU][hapmap]
rs7169339	0.92[AFR][1000 genomes]
rs7170994	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7172577	0.96[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs7183952	0.84[CEU][hapmap]
rs8026128	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs8030563	0.89[EUR][1000 genomes]
rs8031083	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs8032432	0.83[CEU][hapmap]
rs8034428	0.92[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs8038466	0.87[EUR][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	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv1845471	chr15:54556063-54685463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4776219	USP50	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54547000-54652600	Weak transcription	Fetal Lung	lung

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