Variant report

Variant	rs13056984
Chromosome Location	chr22:31080424-31080425
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	chr22:31071822..31074263-chr22:31079658..31081513,2	K562	blood:
2	chr22:31079828..31084102-chr22:31086333..31091754,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11912792	1.00[ASN][1000 genomes]
rs13053290	1.00[ASN][1000 genomes]
rs13053933	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055490	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055538	1.00[ASN][1000 genomes]
rs13433567	1.00[ASN][1000 genomes]
rs136376	0.83[AMR][1000 genomes]
rs136377	0.83[AMR][1000 genomes]
rs136378	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs136381	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136382	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136385	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136390	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360580	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28672875	1.00[ASN][1000 genomes]
rs34360174	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779325	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34944552	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34961431	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35137429	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35384996	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35613453	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5994332	1.00[ASN][1000 genomes]
rs71331257	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7288635	1.00[ASN][1000 genomes]
rs7290980	1.00[ASN][1000 genomes]
rs9621096	1.00[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13056984	DUSP18	Cis_1M	lymphoblastoid	RTeQTL
rs13056984	CTA-963H5.5	cis	Whole Blood	GTEx
rs13056984	DUSP18	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31074600-31081400	Weak transcription	Fetal Intestine Small	intestine
2	chr22:31077400-31089800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:31077400-31090000	Weak transcription	Fetal Heart	heart
4	chr22:31077600-31081200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:31077600-31090000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:31078200-31081000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:31078200-31089200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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