Variant report

Variant	rs9621175
Chromosome Location	chr22:31468425-31468426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10427701	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10854603	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11705177	0.97[ASN][1000 genomes]
rs11705250	0.97[ASN][1000 genomes]
rs11705313	0.97[ASN][1000 genomes]
rs11705396	0.86[ASN][1000 genomes]
rs12157450	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12157641	0.87[EUR][1000 genomes]
rs12165471	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170984	0.97[ASN][1000 genomes]
rs12330058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053618	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13057068	0.97[ASN][1000 genomes]
rs2006301	1.00[ASN][1000 genomes]
rs35060453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753456	0.87[EUR][1000 genomes]
rs5994365	0.90[ASN][1000 genomes]
rs5994368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997863	0.97[ASN][1000 genomes]
rs5997864	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs5997866	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs5997871	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997872	0.85[ASN][1000 genomes]
rs7284593	0.97[ASN][1000 genomes]
rs7291565	0.95[ASN][1000 genomes]
rs7292038	0.97[ASN][1000 genomes]
rs7292982	0.84[ASN][1000 genomes]
rs9619166	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9619167	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9621175	MORC2-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465400-31471600	Weak transcription	Fetal Intestine Large	intestine
2	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:31466200-31471800	Weak transcription	Osteobl	bone
4	chr22:31466200-31472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:31466400-31471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:31466400-31471800	Weak transcription	NHEK	skin
7	chr22:31467800-31471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:31468000-31471800	Weak transcription	Right Atrium	heart

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