Variant report

Variant	rs12310639
Chromosome Location	chr12:4742895-4742896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11063280	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11063282	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11063285	0.86[ASN][1000 genomes]
rs12303320	0.95[ASN][1000 genomes]
rs12308883	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12309713	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12313377	0.98[ASN][1000 genomes]
rs12318966	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12811453	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12828416	0.93[ASN][1000 genomes]
rs12829711	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16931616	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16931620	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1860343	0.94[ASN][1000 genomes]
rs1990311	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2072354	0.91[EUR][1000 genomes]
rs2267548	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2299833	0.96[ASN][1000 genomes]
rs2302246	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2884671	0.87[ASN][1000 genomes]
rs35131771	0.93[ASN][1000 genomes]
rs35167443	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4147666	0.94[EUR][1000 genomes]
rs4147667	0.82[EUR][1000 genomes]
rs4147671	0.89[ASN][1000 genomes]
rs4147672	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4147673	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4147677	0.88[ASN][1000 genomes]
rs4147678	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4147679	0.88[ASN][1000 genomes]
rs4147680	0.88[ASN][1000 genomes]
rs4147682	0.85[ASN][1000 genomes]
rs4147684	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4147685	0.88[ASN][1000 genomes]
rs4766264	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766267	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766269	0.88[ASN][1000 genomes]
rs61909965	0.88[ASN][1000 genomes]
rs7136668	0.96[ASN][1000 genomes]
rs7312402	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7958182	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7972657	0.88[ASN][1000 genomes]
rs7972737	0.96[ASN][1000 genomes]
rs7972920	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7975484	0.93[ASN][1000 genomes]
rs7977981	0.93[ASN][1000 genomes]
rs876586	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv826200	chr12:4740875-4742902	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12310639	AKAP3	cis	Thyroid	GTEx
rs12310639	AKAP3	cis	lung	GTEx
rs12310639	AKAP3	cis	Muscle Skeletal	GTEx
rs12310639	AKAP3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 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
5	chr12:4742600-4743000	Enhancers	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links