Variant report

Variant	rs314692
Chromosome Location	chr13:80007226-80007227
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11620233	0.83[ASN][1000 genomes]
rs12877507	0.95[ASN][1000 genomes]
rs1324868	0.95[ASN][1000 genomes]
rs1590465	0.95[ASN][1000 genomes]
rs1616547	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1619669	0.92[ASN][1000 genomes]
rs1624537	0.99[ASN][1000 genomes]
rs1748761	0.98[ASN][1000 genomes]
rs1748762	0.98[ASN][1000 genomes]
rs1748763	0.98[ASN][1000 genomes]
rs1748769	0.99[ASN][1000 genomes]
rs1749982	0.92[ASN][1000 genomes]
rs1853830	0.97[ASN][1000 genomes]
rs1886494	0.95[ASN][1000 genomes]
rs1980764	0.91[ASN][1000 genomes]
rs2031815	0.95[ASN][1000 genomes]
rs2095477	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147568	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2182009	0.95[ASN][1000 genomes]
rs2265377	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265378	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265381	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265382	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296287	0.98[ASN][1000 genomes]
rs2477395	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2477397	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2484345	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2763809	0.98[ASN][1000 genomes]
rs2763810	0.97[ASN][1000 genomes]
rs2765078	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2876740	0.99[ASN][1000 genomes]
rs314689	0.89[ASN][1000 genomes]
rs314690	0.93[ASN][1000 genomes]
rs314693	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314695	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35476664	0.91[ASN][1000 genomes]
rs3742120	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742122	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3764150	0.88[ASN][1000 genomes]
rs4146473	0.85[ASN][1000 genomes]
rs416660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418150	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4605023	0.95[ASN][1000 genomes]
rs57821487	0.95[ASN][1000 genomes]
rs586219	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643778	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563100	0.94[ASN][1000 genomes]
rs6563104	0.95[ASN][1000 genomes]
rs7321186	0.95[ASN][1000 genomes]
rs7322901	0.95[ASN][1000 genomes]
rs7323246	0.95[ASN][1000 genomes]
rs7328494	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7329331	0.95[ASN][1000 genomes]
rs7330479	0.95[ASN][1000 genomes]
rs7331525	0.98[ASN][1000 genomes]
rs7331766	0.95[ASN][1000 genomes]
rs7331867	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7331872	0.95[ASN][1000 genomes]
rs7336186	0.95[ASN][1000 genomes]
rs7336581	0.95[ASN][1000 genomes]
rs7336939	0.93[ASN][1000 genomes]
rs7336979	0.98[ASN][1000 genomes]
rs7338678	0.95[ASN][1000 genomes]
rs7981500	0.95[ASN][1000 genomes]
rs7986306	0.88[ASN][1000 genomes]
rs7987193	0.98[ASN][1000 genomes]
rs7990321	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001281	0.99[ASN][1000 genomes]
rs8001308	0.91[ASN][1000 genomes]
rs8001392	0.85[ASN][1000 genomes]
rs8001622	0.99[ASN][1000 genomes]
rs8001795	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002838	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912639	0.99[ASN][1000 genomes]
rs9318638	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318640	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318641	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530913	0.95[ASN][1000 genomes]
rs9530914	0.96[ASN][1000 genomes]
rs9530915	0.94[ASN][1000 genomes]
rs9530917	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530920	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545097	0.96[ASN][1000 genomes]
rs9545101	0.96[ASN][1000 genomes]
rs9545104	0.95[ASN][1000 genomes]
rs9545106	0.95[ASN][1000 genomes]
rs9545108	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545109	0.99[ASN][1000 genomes]
rs9545113	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545114	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565496	0.95[ASN][1000 genomes]
rs9565497	0.97[ASN][1000 genomes]
rs9565500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9574416	0.95[ASN][1000 genomes]
rs9574418	0.96[ASN][1000 genomes]
rs9574419	0.95[ASN][1000 genomes]
rs9574420	0.95[ASN][1000 genomes]
rs9574422	1.00[ASN][1000 genomes]
rs9593396	0.95[ASN][1000 genomes]
rs9601226	0.95[ASN][1000 genomes]
rs9601227	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs314692	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79981200-80010200	Weak transcription	Right Ventricle	heart
2	chr13:80001800-80009000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:80003200-80009200	Weak transcription	Fetal Heart	heart
4	chr13:80006400-80009000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:80007200-80007400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:80007200-80007400	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr13:80007200-80007400	ZNF genes & repeats	Spleen	Spleen

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