Variant report

Variant	rs11130155
Chromosome Location	chr3:48140428-48140429
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48121775..48123666-chr3:48140114..48142573,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1013431	0.83[CEU][hapmap];0.93[GIH][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10446426	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1060407	0.82[TSI][hapmap]
rs11130152	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11130154	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11707679	0.82[TSI][hapmap]
rs11710866	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711129	0.81[EUR][1000 genomes]
rs11714518	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11720151	0.87[CEU][hapmap];0.98[GIH][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720973	0.82[EUR][1000 genomes]
rs11924107	0.86[AMR][1000 genomes]
rs12486714	0.87[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493348	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074973	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13075457	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13075795	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13080997	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13081463	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13085054	0.87[CEU][hapmap];0.98[GIH][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13089844	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1530646	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1550914	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2034963	0.92[EUR][1000 genomes]
rs2053767	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2121754	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2166770	0.83[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2166772	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2361683	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2361684	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28637561	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34597784	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35314534	0.85[EUR][1000 genomes]
rs35689209	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4293721	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4296617	0.85[EUR][1000 genomes]
rs4392441	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4599334	0.83[CEU][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4858871	0.93[GIH][hapmap];0.82[TSI][hapmap]
rs4858876	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4858880	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4858881	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4858882	0.81[EUR][1000 genomes]
rs4858887	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5012971	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56067795	0.86[AMR][1000 genomes]
rs62260830	0.84[AMR][1000 genomes]
rs6442090	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6442091	0.85[EUR][1000 genomes]
rs6442094	0.81[EUR][1000 genomes]
rs6442096	0.82[EUR][1000 genomes]
rs6442099	0.85[AMR][1000 genomes]
rs6442101	0.83[CEU][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442102	0.86[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67536946	0.81[EUR][1000 genomes]
rs6766641	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6768318	0.82[EUR][1000 genomes]
rs6770467	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6770477	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6771917	0.81[ASN][1000 genomes]
rs6773208	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6777081	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6791834	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6793477	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6803741	0.83[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs6804520	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6806820	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7374482	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7374516	0.83[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7426976	0.87[CEU][hapmap];0.93[GIH][hapmap];0.97[MKK][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7427418	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7427648	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7430879	0.83[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7430913	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7620736	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7627645	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7642590	0.83[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7649981	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs936428	0.87[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9811277	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9814961	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9825114	0.87[CEU][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9846062	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9854454	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9860485	0.84[EUR][1000 genomes]
rs9862913	0.83[CEU][hapmap];0.93[GIH][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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	17 gene(s)	inside rSNPs	diseases
7	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11130155	MRPS18AP1	cis	Artery Tibial	GTEx
rs11130155	ZNF589	cis	Nerve Tibial	GTEx
rs11130155	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs11130155	CDC25A	cis	Thyroid	GTEx
rs11130155	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs11130155	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs11130155	MRPS18AP1	cis	Thyroid	GTEx
rs11130155	CDC25A	cis	Muscle Skeletal	GTEx
rs11130155	ZNF589	cis	Adipose Subcutaneous	GTEx
rs11130155	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs11130155	MRPS18AP1	cis	lung	GTEx
rs11130155	ZNF589	cis	Esophagus Mucosa	GTEx
rs11130155	NME6	cis	Esophagus Muscularis	GTEx
rs11130155	MRPS18AP1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48132000-48142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:48140000-48142000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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