Variant report

Variant	rs11630366
Chromosome Location	chr15:54547829-54547830
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10851563	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10851564	0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11071065	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11071066	0.81[ASW][hapmap];0.96[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11630766	0.95[CEU][hapmap]
rs11635242	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11635437	0.96[CEU][hapmap]
rs12439702	0.92[CEU][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12441013	0.88[CEU][hapmap]
rs12900325	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12901994	0.83[CHB][hapmap]
rs12902524	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs12903297	0.81[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12903779	0.82[CEU][hapmap]
rs12908083	0.84[CEU][hapmap]
rs12914912	0.96[CEU][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12916984	0.84[CEU][hapmap]
rs12917198	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs2414285	0.81[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2414288	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2414292	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4144949	0.92[CEU][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4517736	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs4569201	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4774690	0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs4774691	0.96[CEU][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4776216	0.88[CEU][hapmap]
rs4776219	0.88[CEU][hapmap];0.83[GIH][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs4776220	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs4776222	0.92[CEU][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5025252	0.92[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5027653	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58301914	0.80[EUR][1000 genomes]
rs6493669	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493670	0.91[ASW][hapmap];0.92[CEU][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7162346	0.88[CEU][hapmap];0.83[TSI][hapmap]
rs7169339	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7170994	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7172577	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs7176603	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs7183952	0.88[CEU][hapmap];0.83[TSI][hapmap]
rs8026128	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs8030563	0.96[EUR][1000 genomes]
rs8031083	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs8032432	0.88[CEU][hapmap]
rs8034428	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8038466	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[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	nsv1043666	chr15:54415970-54548495	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11630366	USP50	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54519000-54554400	Weak transcription	Aorta	Aorta
2	chr15:54519400-54549600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:54542600-54549800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:54547000-54652600	Weak transcription	Fetal Lung	lung

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