Variant report

Variant	rs13134132
Chromosome Location	chr4:120324615-120324616
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10002914	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10008386	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10008392	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10012408	0.81[ASN][1000 genomes]
rs10013652	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10014719	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10016241	0.81[ASN][1000 genomes]
rs10016944	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10017543	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10020256	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10021601	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10022448	0.81[ASN][1000 genomes]
rs10023569	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10024844	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10025054	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10025925	0.81[ASN][1000 genomes]
rs10028773	0.81[ASN][1000 genomes]
rs10517834	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10518331	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10857068	0.80[ASN][1000 genomes]
rs11098505	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11098506	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11098507	0.80[AMR][1000 genomes]
rs11098513	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11098514	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12374244	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12374245	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12374352	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12499602	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12501602	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12502524	0.81[ASN][1000 genomes]
rs12504149	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12506148	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12506487	0.81[ASN][1000 genomes]
rs12508173	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12510133	0.81[ASN][1000 genomes]
rs12510451	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12510487	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12512118	0.80[EUR][1000 genomes]
rs12513310	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13104572	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13105020	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13125526	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13132082	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13133522	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13151285	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2136911	0.81[ASN][1000 genomes]
rs2389802	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28369518	0.83[ASN][1000 genomes]
rs28396837	0.82[ASN][1000 genomes]
rs28437684	0.81[ASN][1000 genomes]
rs28501434	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28572238	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28599836	0.81[ASN][1000 genomes]
rs28668103	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28714087	0.81[ASN][1000 genomes]
rs28714195	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34913743	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35091806	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35165976	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3864144	0.81[ASN][1000 genomes]
rs3890049	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4079144	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4309825	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4345162	0.82[ASN][1000 genomes]
rs4604043	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55845118	0.80[ASN][1000 genomes]
rs67281037	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6824111	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6824169	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6838009	0.81[ASN][1000 genomes]
rs6845714	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6846442	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6846620	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6846966	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6847586	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6847778	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6848081	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6857892	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72676059	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7437420	0.82[ASN][1000 genomes]
rs7677068	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7695996	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696465	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696649	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696857	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696875	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9991221	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9995045	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9995136	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9995234	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9995244	0.85[ASN][1000 genomes]
rs9995716	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv966315	chr4:120323446-120375667	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs13134132	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs13134132	RP11-384K6.6	cis	Whole Blood	GTEx
rs13134132	RP11-33B1.1	cis	lung	GTEx
rs13134132	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs13134132	RP11-33B1.1	cis	Whole Blood	GTEx
rs13134132	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs13134132	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs13134132	RP11-33B1.1	cis	Nerve Tibial	GTEx
rs13134132	RP11-33B1.4	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120317600-120325600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:120318000-120333400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:120324200-120342200	Weak transcription	Pancreas	Pancrea
4	chr4:120324400-120326000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:120324600-120328000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:120324600-120330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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