Variant report

Variant	rs5997843
Chromosome Location	chr22:31416122-31416123
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: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11089484	0.81[AFR][1000 genomes]
rs2016654	0.82[EUR][1000 genomes]
rs2019171	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2019182	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041076	0.86[EUR][1000 genomes]
rs3788426	0.80[AFR][1000 genomes]
rs3948685	0.82[EUR][1000 genomes]
rs4820923	0.81[EUR][1000 genomes]
rs4820925	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4820926	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749201	0.80[AFR][1000 genomes]
rs5753407	0.82[AFR][1000 genomes]
rs5997830	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5997838	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6518726	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518729	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7284767	0.80[AFR][1000 genomes]
rs7289831	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7291199	0.82[AFR][1000 genomes]
rs737924	0.80[AFR][1000 genomes]
rs8135974	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9609183	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9609185	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9609188	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9609193	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs5997843	MORC2-AS1	cis	Thyroid	GTEx
rs5997843	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs5997843	MORC2-AS1	cis	Nerve Tibial	GTEx
rs5997843	TUG1	Cis_1M	lymphoblastoid	RTeQTL

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

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

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