Variant report

Variant	rs2019171
Chromosome Location	chr22:31414649-31414650
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: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10854601	0.81[EUR][1000 genomes]
rs11089484	0.83[AFR][1000 genomes]
rs1807686	0.81[EUR][1000 genomes]
rs2016654	0.83[EUR][1000 genomes]
rs2019182	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2041076	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2072132	0.80[EUR][1000 genomes]
rs2240175	0.80[EUR][1000 genomes]
rs2240177	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2240179	0.81[AFR][1000 genomes]
rs2240180	0.81[EUR][1000 genomes]
rs2240183	0.81[EUR][1000 genomes]
rs3747151	0.81[EUR][1000 genomes]
rs3788426	0.82[AFR][1000 genomes]
rs3804084	0.81[EUR][1000 genomes]
rs3804085	0.80[AFR][1000 genomes]
rs3948685	0.83[EUR][1000 genomes]
rs4820916	0.80[AFR][1000 genomes]
rs4820923	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4820925	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820926	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749192	0.81[EUR][1000 genomes]
rs5753383	0.80[EUR][1000 genomes]
rs5753394	0.81[EUR][1000 genomes]
rs5753407	0.84[AFR][1000 genomes]
rs5753408	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs5753410	0.82[AFR][1000 genomes]
rs5997830	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5997838	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5997842	0.81[EUR][1000 genomes]
rs5997843	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518726	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6518729	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs722683	0.82[AFR][1000 genomes]
rs722684	0.82[AFR][1000 genomes]
rs7289831	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7291199	0.84[AFR][1000 genomes]
rs7291361	0.81[EUR][1000 genomes]
rs737924	0.82[AFR][1000 genomes]
rs737927	0.80[EUR][1000 genomes]
rs739896	0.81[EUR][1000 genomes]
rs8135974	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9609183	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9609185	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9609188	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9609193	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3396561	chr22:31413377-31415925	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2019171	MORC2-AS1	cis	Thyroid	GTEx
rs2019171	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs2019171	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2019171	MORC2-AS1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31413400-31415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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