Variant report

Variant	rs9493458
Chromosome Location	chr6:133155584-133155585
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133140438..133142973-chr6:133152186..133155729,4	K562	blood:
2	chr6:133133823..133137064-chr6:133152471..133155832,4	K562	blood:

Variant related genes	Relation type
ENSG00000206754	Chromatin interaction
ENSG00000112306	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10457594	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11154696	0.83[MEX][hapmap]
rs1124450	0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12193918	0.82[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs12200907	0.83[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs12202302	0.83[CHD][hapmap]
rs12206120	0.83[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs12207260	0.85[ASN][1000 genomes]
rs1359142	0.83[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs1408062	0.94[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1408063	0.86[ASN][1000 genomes]
rs1903143	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1965895	0.87[ASN][1000 genomes]
rs2236381	0.86[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2236382	0.86[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs35893416	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4599669	0.86[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4897616	0.84[ASN][1000 genomes]
rs4897617	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4897618	0.84[ASN][1000 genomes]
rs6569853	0.86[ASN][1000 genomes]
rs6569854	0.86[ASN][1000 genomes]
rs6569857	0.87[ASN][1000 genomes]
rs6569858	0.87[ASN][1000 genomes]
rs6569859	0.87[ASN][1000 genomes]
rs6925225	0.87[ASN][1000 genomes]
rs6926217	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs6926466	0.83[CHD][hapmap]
rs6927761	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs755895	0.87[ASN][1000 genomes]
rs7743635	0.86[ASN][1000 genomes]
rs7744235	0.86[ASN][1000 genomes]
rs7744426	0.82[ASN][1000 genomes]
rs7750176	0.84[ASN][1000 genomes]
rs7751333	0.87[ASN][1000 genomes]
rs7751359	0.87[ASN][1000 genomes]
rs7755422	0.87[ASN][1000 genomes]
rs7756588	0.83[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs7759900	0.87[ASN][1000 genomes]
rs7764152	0.83[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7764252	0.86[ASN][1000 genomes]
rs7764726	0.84[ASN][1000 genomes]
rs7766944	0.87[ASN][1000 genomes]
rs7768053	0.82[CHD][hapmap]
rs7768470	0.83[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9321374	0.86[CEU][hapmap];0.81[CHB][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9321377	0.88[ASN][1000 genomes]
rs9321380	0.87[ASN][1000 genomes]
rs9321382	0.80[ASN][1000 genomes]
rs9321383	0.80[ASN][1000 genomes]
rs9373030	0.83[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9375924	0.86[ASN][1000 genomes]
rs9375925	0.86[ASN][1000 genomes]
rs9375927	0.83[CHD][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap]
rs9389034	0.86[CEU][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9399043	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs9399044	0.82[CEU][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9402460	0.87[ASN][1000 genomes]
rs9402462	0.86[ASN][1000 genomes]
rs9493450	0.89[CHD][hapmap]
rs9493459	0.86[ASW][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.87[MEX][hapmap];0.81[YRI][hapmap]
rs9493470	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs9493474	0.90[CHB][hapmap];0.89[JPT][hapmap]

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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9493458	SNORA33	cis	cerebellum	SCAN
rs9493458	C6orf192	cis	multi-tissue	Pritchard
rs9493458	LOC285735	cis	parietal	SCAN
rs9493458	ACA33	cis	multi-tissue	Pritchard

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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