Variant report

Variant	rs4718434
Chromosome Location	chr7:66446065-66446066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12531516	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12532160	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533830	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12534401	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537825	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12537955	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12539366	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12540695	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17567255	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2091314	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293351	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34758320	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800819	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4717332	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718426	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62465736	0.82[ASN][1000 genomes]
rs62465738	0.82[ASN][1000 genomes]
rs62465739	0.82[ASN][1000 genomes]
rs62465740	0.82[ASN][1000 genomes]
rs62465741	0.82[ASN][1000 genomes]
rs62465742	0.82[ASN][1000 genomes]
rs62465743	0.82[ASN][1000 genomes]
rs62465744	0.82[ASN][1000 genomes]
rs62465745	0.82[ASN][1000 genomes]
rs62465747	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62465748	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62465750	0.82[EUR][1000 genomes]
rs62465752	0.82[EUR][1000 genomes]
rs62466575	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62466578	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62466582	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62466584	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62466586	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62466588	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62466589	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv966836	chr7:66438146-66457576	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4718434	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:66433200-66458600	Weak transcription	Right Atrium	heart
4	chr7:66444800-66456800	Weak transcription	Stomach Mucosa	stomach
5	chr7:66445800-66451600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:66445800-66452800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:66446000-66453200	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links