Variant report

Variant	rs6518726
Chromosome Location	chr22:31415931-31415932
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	chr22:31413340..31416231-chr22:31418212..31420315,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1003480	0.83[YRI][hapmap]
rs1005252	0.96[YRI][hapmap]
rs10854601	0.91[CEU][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs11089481	0.90[MEX][hapmap];0.81[TSI][hapmap]
rs11089484	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12167141	0.81[TSI][hapmap]
rs1807686	0.81[EUR][1000 genomes]
rs2016654	0.82[EUR][1000 genomes]
rs2019171	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2019182	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041076	0.86[EUR][1000 genomes]
rs2072132	0.87[CEU][hapmap]
rs2074578	0.89[YRI][hapmap]
rs2079221	0.81[EUR][1000 genomes]
rs2240175	0.88[ASW][hapmap];0.91[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap]
rs2240176	0.85[MEX][hapmap];0.86[TSI][hapmap]
rs2240177	0.94[ASW][hapmap];0.91[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs2240179	0.91[CEU][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2240180	0.87[ASW][hapmap];0.91[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs2240182	0.96[YRI][hapmap]
rs2240183	0.91[CEU][hapmap];0.80[CHB][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs2285918	0.96[YRI][hapmap]
rs3747151	0.94[ASW][hapmap];0.91[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs3788426	0.94[ASW][hapmap];0.91[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3804084	0.81[EUR][1000 genomes]
rs3804085	0.94[ASW][hapmap];0.91[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes]
rs3827330	0.89[MEX][hapmap];0.86[TSI][hapmap]
rs3948685	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4820916	0.94[ASW][hapmap];0.91[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes]
rs4820921	0.85[MEX][hapmap];0.86[TSI][hapmap]
rs4820923	0.82[EUR][1000 genomes]
rs4820925	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820926	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749185	0.82[ASW][hapmap];0.87[CEU][hapmap];0.80[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs5749186	0.93[YRI][hapmap]
rs5749192	0.81[EUR][1000 genomes]
rs5749199	0.82[EUR][1000 genomes]
rs5753369	0.89[YRI][hapmap]
rs5753389	0.85[EUR][1000 genomes]
rs5753394	0.88[ASW][hapmap];0.91[CEU][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs5753398	0.96[YRI][hapmap]
rs5753407	0.91[CEU][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs5753408	0.91[CEU][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs5753410	0.91[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs5997802	0.90[MEX][hapmap];0.86[TSI][hapmap]
rs5997807	0.83[EUR][1000 genomes]
rs5997830	0.87[CEU][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs5997838	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997842	0.81[EUR][1000 genomes]
rs5997843	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5997846	1.00[YRI][hapmap]
rs6518729	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722683	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs722684	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7284767	0.94[ASW][hapmap];0.91[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap]
rs7289831	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7291199	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7291361	0.91[CEU][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs737924	0.94[ASW][hapmap];0.91[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.98[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs737927	0.87[CEU][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap]
rs739896	0.91[CEU][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs8004	0.91[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs8135974	0.87[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8140448	0.81[TSI][hapmap]
rs9609183	0.90[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9609185	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9609188	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9609193	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6518726	C22orf27	cis	cerebellum	SCAN
rs6518726	MORC2-AS1	cis	Whole Blood	GTEx
rs6518726	MORC2-AS1	cis	Thyroid	GTEx
rs6518726	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs6518726	MORC2	cis	parietal	SCAN
rs6518726	TUG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31415000-31416000	Enhancers	Esophagus	oesophagus
2	chr22:31415000-31416600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:31415000-31416600	Enhancers	Placenta	Placenta
4	chr22:31415200-31417200	Enhancers	HepG2	liver
5	chr22:31415600-31416600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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