Variant report

Variant	rs2359250
Chromosome Location	chr12:4744307-4744308
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	chr12:4743724..4745923-chr12:4752293..4755038,2	K562	blood:

Variant related genes	Relation type
ENSG00000111254	Chromatin interaction
ENSG00000256381	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10444481	0.81[AMR][1000 genomes]
rs10774252	0.87[AMR][1000 genomes]
rs10774253	0.87[AMR][1000 genomes]
rs10774254	0.85[AMR][1000 genomes]
rs10849109	0.81[AMR][1000 genomes]
rs10849110	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10849112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063270	0.81[AMR][1000 genomes]
rs12227238	0.81[AMR][1000 genomes]
rs1860342	0.87[AMR][1000 genomes]
rs2011298	0.87[AMR][1000 genomes]
rs2058204	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2072355	0.97[ASN][1000 genomes]
rs2072356	0.92[ASN][1000 genomes]
rs2191156	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267544	0.87[AMR][1000 genomes]
rs2267547	0.87[AMR][1000 genomes]
rs2359251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147683	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7133999	0.84[EUR][1000 genomes]
rs7295274	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7300882	0.85[AMR][1000 genomes]
rs7301072	0.87[AMR][1000 genomes]
rs7310920	0.81[AMR][1000 genomes]
rs7311845	0.81[AMR][1000 genomes]
rs917566	0.92[ASN][1000 genomes]
rs979878	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs997373	0.86[EUR][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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv468986	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv557124	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2359250	DYRK4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:4737600-4757400	Weak transcription	Pancreas	Pancrea
4	chr12:4737800-4757200	Weak transcription	Brain Anterior Caudate	brain

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