Variant report

Variant	rs7939750
Chromosome Location	chr11:17079755-17079756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10766373	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832727	0.86[ASN][1000 genomes]
rs10832728	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832733	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10832734	0.82[AMR][1000 genomes]
rs10832735	0.80[AMR][1000 genomes]
rs10832736	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10832739	0.81[AFR][1000 genomes]
rs11024113	0.89[ASN][1000 genomes]
rs11024116	0.89[ASN][1000 genomes]
rs11024130	0.86[ASN][1000 genomes]
rs11024131	0.86[ASN][1000 genomes]
rs11024143	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024148	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024159	0.83[AFR][1000 genomes]
rs11024163	0.81[AFR][1000 genomes]
rs11821773	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12280930	0.81[AFR][1000 genomes]
rs12286505	0.84[AFR][1000 genomes]
rs12293395	0.87[ASN][1000 genomes]
rs1236309	0.81[AFR][1000 genomes]
rs17472886	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34591697	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35933265	0.83[AMR][1000 genomes]
rs4255517	0.89[ASN][1000 genomes]
rs4456241	0.89[ASN][1000 genomes]
rs4517490	0.89[ASN][1000 genomes]
rs6486346	0.88[ASN][1000 genomes]
rs6486347	0.86[ASN][1000 genomes]
rs6486348	0.88[ASN][1000 genomes]
rs6486352	0.81[AFR][1000 genomes]
rs7104247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71047522	0.88[ASN][1000 genomes]
rs7106705	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7106954	0.88[ASN][1000 genomes]
rs7107283	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7107745	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7117166	0.81[ASN][1000 genomes]
rs7118006	0.81[AFR][1000 genomes]
rs7123301	0.81[AFR][1000 genomes]
rs7125607	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7396382	0.81[AFR][1000 genomes]
rs7396958	0.81[AFR][1000 genomes]
rs7927240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7929927	0.89[ASN][1000 genomes]
rs7930058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7932916	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7935162	0.82[ASN][1000 genomes]
rs7935219	0.81[AFR][1000 genomes]
rs7937770	0.84[AMR][1000 genomes]
rs7937880	0.88[ASN][1000 genomes]
rs7938820	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7939614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949405	0.88[ASN][1000 genomes]
rs7950225	0.86[ASN][1000 genomes]
rs9919540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919600	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv971988	chr11:17068362-17084978	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7939750	OR7E14P	cis	Nerve Tibial	GTEx
rs7939750	OR7E14P	cis	Esophagus Mucosa	GTEx
rs7939750	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17069400-17096200	Weak transcription	Pancreas	Pancrea
2	chr11:17070600-17088400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:17079400-17094600	Weak transcription	Primary B cells from cord blood	blood

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