Variant report

Variant	rs35131771
Chromosome Location	chr12:4730744-4730745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1008578	0.92[EUR][1000 genomes]
rs10744653	0.85[EUR][1000 genomes]
rs10744654	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10774245	0.92[EUR][1000 genomes]
rs11063280	0.82[ASN][1000 genomes]
rs11063282	0.82[ASN][1000 genomes]
rs12303320	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12308883	0.82[ASN][1000 genomes]
rs12310639	0.93[ASN][1000 genomes]
rs12313377	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12318966	0.81[ASN][1000 genomes]
rs12811453	0.82[ASN][1000 genomes]
rs12828416	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829711	0.99[ASN][1000 genomes]
rs16931616	0.81[ASN][1000 genomes]
rs16931620	0.81[ASN][1000 genomes]
rs1860343	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860344	0.91[EUR][1000 genomes]
rs1974602	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1990311	0.81[ASN][1000 genomes]
rs2267548	0.81[ASN][1000 genomes]
rs2286576	0.83[EUR][1000 genomes]
rs2299833	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2302246	0.82[ASN][1000 genomes]
rs2302248	0.85[EUR][1000 genomes]
rs2884671	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35167443	0.82[ASN][1000 genomes]
rs4147671	0.82[ASN][1000 genomes]
rs4147672	0.82[ASN][1000 genomes]
rs4147673	0.82[ASN][1000 genomes]
rs4147677	0.81[ASN][1000 genomes]
rs4147678	0.81[ASN][1000 genomes]
rs4147679	0.81[ASN][1000 genomes]
rs4147680	0.81[ASN][1000 genomes]
rs4147684	0.81[ASN][1000 genomes]
rs4147685	0.81[ASN][1000 genomes]
rs4766264	0.93[ASN][1000 genomes]
rs4766267	0.93[ASN][1000 genomes]
rs4766269	0.81[ASN][1000 genomes]
rs61909965	0.81[ASN][1000 genomes]
rs7136668	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720673	0.88[EUR][1000 genomes]
rs7300543	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs730065	0.85[EUR][1000 genomes]
rs7305150	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7312402	0.86[ASN][1000 genomes]
rs7958182	0.81[ASN][1000 genomes]
rs7972657	0.81[ASN][1000 genomes]
rs7972737	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972920	0.81[ASN][1000 genomes]
rs7975484	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977981	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876586	0.93[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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35131771	DYRK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4723600-4735600	Weak transcription	HMEC	breast
2	chr12:4723800-4732000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:4724200-4735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:4725400-4736800	Weak transcription	Pancreas	Pancrea
6	chr12:4725400-4737000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:4725400-4737000	Weak transcription	Left Ventricle	heart
8	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:4725600-4735800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:4725600-4738400	Weak transcription	Brain Inferior Temporal Lobe	brain

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