Variant report

Variant	rs11720597
Chromosome Location	chr3:49635354-49635355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49449748..49451346-chr3:49634914..49637778,2	K562	blood:

Variant related genes	Relation type
ENSG00000067560	Chromatin interaction
ENSG00000145022	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10212296	0.86[EUR][1000 genomes]
rs11130203	0.89[EUR][1000 genomes]
rs11130213	0.82[AMR][1000 genomes]
rs1131095	0.82[AMR][1000 genomes]
rs11709525	0.80[AMR][1000 genomes]
rs11710037	0.86[AMR][1000 genomes]
rs11711485	0.81[EUR][1000 genomes]
rs11712569	0.83[EUR][1000 genomes]
rs11713474	0.90[EUR][1000 genomes]
rs11718165	0.82[AMR][1000 genomes]
rs11719996	0.85[EUR][1000 genomes]
rs11917431	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11921590	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11926781	0.91[EUR][1000 genomes]
rs12330269	0.86[EUR][1000 genomes]
rs12636099	0.88[ASN][1000 genomes]
rs13062429	0.82[EUR][1000 genomes]
rs13064576	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13079082	0.91[EUR][1000 genomes]
rs13085791	0.81[AMR][1000 genomes]
rs13316695	0.83[AMR][1000 genomes]
rs1801143	0.91[EUR][1000 genomes]
rs1873625	0.86[AMR][1000 genomes]
rs2172252	0.85[AMR][1000 genomes]
rs3197999	0.80[AMR][1000 genomes]
rs34196454	0.87[EUR][1000 genomes]
rs34293138	0.91[EUR][1000 genomes]
rs34363169	0.86[EUR][1000 genomes]
rs34427167	0.91[EUR][1000 genomes]
rs34762726	0.83[AMR][1000 genomes]
rs35261698	0.86[EUR][1000 genomes]
rs35999162	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811697	0.91[EUR][1000 genomes]
rs3926569	0.87[EUR][1000 genomes]
rs4283605	0.83[AMR][1000 genomes]
rs4625	0.90[EUR][1000 genomes]
rs67216675	0.81[EUR][1000 genomes]
rs6766131	0.86[EUR][1000 genomes]
rs6766581	0.86[EUR][1000 genomes]
rs6770670	0.85[AMR][1000 genomes]
rs6787417	0.80[ASN][1000 genomes]
rs6797664	0.86[EUR][1000 genomes]
rs6803222	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7614725	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7622302	0.87[EUR][1000 genomes]
rs7630869	0.85[EUR][1000 genomes]
rs7633271	0.87[EUR][1000 genomes]
rs9812791	0.83[AMR][1000 genomes]
rs9818590	0.86[EUR][1000 genomes]
rs9821311	0.87[EUR][1000 genomes]
rs9822268	0.81[AMR][1000 genomes]
rs9823546	0.82[AMR][1000 genomes]
rs9824092	0.85[AMR][1000 genomes]
rs9827021	0.86[EUR][1000 genomes]
rs9827708	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9833611	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9837027	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9837341	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9841110	0.81[EUR][1000 genomes]
rs9850072	0.86[EUR][1000 genomes]
rs9853683	0.86[EUR][1000 genomes]
rs9858280	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9858418	0.84[EUR][1000 genomes]
rs9858542	0.82[AMR][1000 genomes]
rs9862080	0.85[AMR][1000 genomes]
rs9875617	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882740	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11720597	IHPK2	Cis_1M	lymphoblastoid	RTeQTL
rs11720597	FAM212A	cis	Muscle Skeletal	GTEx
rs11720597	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49630800-49636800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:49631000-49639600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links