Variant report

Variant	rs7123438
Chromosome Location	chr11:45323777-45323778
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10219177	0.91[AFR][1000 genomes]
rs10769136	0.80[EUR][1000 genomes]
rs10838443	0.90[AFR][1000 genomes]
rs10838444	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038388	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038390	0.95[ASN][1000 genomes]
rs11530155	0.94[ASN][1000 genomes]
rs12791607	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289448	0.81[EUR][1000 genomes]
rs2863182	0.81[EUR][1000 genomes]
rs2902433	0.80[EUR][1000 genomes]
rs34801223	0.94[ASN][1000 genomes]
rs4073405	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4556529	0.81[EUR][1000 genomes]
rs4755306	0.81[EUR][1000 genomes]
rs4755962	0.87[ASN][1000 genomes]
rs4755965	0.86[ASN][1000 genomes]
rs4755966	0.87[ASN][1000 genomes]
rs4755967	0.87[ASN][1000 genomes]
rs60816887	0.87[AFR][1000 genomes]
rs6416133	0.87[ASN][1000 genomes]
rs6485607	0.81[EUR][1000 genomes]
rs6485608	0.81[EUR][1000 genomes]
rs6485613	0.89[ASN][1000 genomes]
rs6485614	0.88[ASN][1000 genomes]
rs6485615	0.82[ASN][1000 genomes]
rs6485616	0.87[ASN][1000 genomes]
rs7106802	0.87[ASN][1000 genomes]
rs7110287	0.81[ASN][1000 genomes]
rs7112865	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118844	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122933	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7124597	0.87[ASN][1000 genomes]
rs7130748	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131174	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131438	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7395357	0.81[EUR][1000 genomes]
rs7395419	0.81[EUR][1000 genomes]
rs7395421	0.81[EUR][1000 genomes]
rs7396488	0.80[EUR][1000 genomes]
rs7480175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480542	0.87[ASN][1000 genomes]
rs7482739	0.81[EUR][1000 genomes]
rs7483595	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926308	0.89[AFR][1000 genomes]
rs7946683	0.87[ASN][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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7123438	SYT13	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45322600-45323800	Enhancers	Duodenum Mucosa	Duodenum
2	chr11:45322600-45323800	Enhancers	Small Intestine	intestine
3	chr11:45323200-45324200	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:45323400-45324000	Enhancers	Fetal Intestine Small	intestine
5	chr11:45323600-45323800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:45323600-45323800	Enhancers	Fetal Intestine Large	intestine

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