Variant report

Variant	rs5997842
Chromosome Location	chr22:31416033-31416034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1017066	0.85[EUR][1000 genomes]
rs1034845	0.85[EUR][1000 genomes]
rs12166294	0.81[EUR][1000 genomes]
rs12168307	0.81[EUR][1000 genomes]
rs2019171	0.81[EUR][1000 genomes]
rs2240176	0.83[EUR][1000 genomes]
rs3827330	0.84[EUR][1000 genomes]
rs4820921	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs5753378	0.82[EUR][1000 genomes]
rs5753379	0.82[EUR][1000 genomes]
rs5997802	0.82[EUR][1000 genomes]
rs5997837	0.85[EUR][1000 genomes]
rs6518726	0.81[EUR][1000 genomes]
rs6518729	0.82[EUR][1000 genomes]
rs7284474	0.85[EUR][1000 genomes]
rs7288964	0.86[EUR][1000 genomes]
rs7291471	0.84[EUR][1000 genomes]
rs9609185	0.80[EUR][1000 genomes]
rs9609193	0.80[EUR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs5997842	MORC2-AS1	cis	Thyroid	GTEx
rs5997842	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5997842	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs5997842	MORC2-AS1	cis	Whole Blood	GTEx
rs5997842	MORC2-AS1	cis	Nerve Tibial	GTEx

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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Input of quick search could be:

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

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