Variant report

Variant	rs4234819
Chromosome Location	chr4:7489682-7489683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10001358	1.00[EUR][1000 genomes]
rs10002144	1.00[EUR][1000 genomes]
rs10002768	1.00[EUR][1000 genomes]
rs10804999	1.00[ASW][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10805000	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16840497	1.00[TSI][hapmap]
rs16840543	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16840589	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16840614	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16840635	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16840725	1.00[EUR][1000 genomes]
rs41330946	1.00[TSI][hapmap]
rs4234820	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4234821	0.86[AFR][1000 genomes]
rs4234822	0.84[AFR][1000 genomes]
rs4314286	0.80[YRI][hapmap]
rs4330351	0.80[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4572883	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4689131	0.80[YRI][hapmap]
rs4689757	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59256904	1.00[EUR][1000 genomes]
rs6446604	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7683873	1.00[EUR][1000 genomes]
rs7690364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7691525	1.00[EUR][1000 genomes]
rs7692130	1.00[EUR][1000 genomes]
rs7693764	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs871943	1.00[EUR][1000 genomes]
rs9884448	1.00[EUR][1000 genomes]
rs9884644	1.00[EUR][1000 genomes]
rs9884725	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878561	chr4:7402284-7544610	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv878563	chr4:7420785-7529367	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878564	chr4:7421007-7535214	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878566	chr4:7456717-7529367	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv878567	chr4:7456717-7544610	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
11	esv34002	chr4:7481398-7508494	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4234819	ARHGEF5	trans	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7487600-7489800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr4:7487800-7490400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:7488000-7490400	Enhancers	Brain Germinal Matrix	brain
4	chr4:7488200-7490200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7488400-7490200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:7488400-7490600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:7488800-7490000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:7488800-7490000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr4:7488800-7491000	Enhancers	Fetal Brain Male	brain
10	chr4:7489000-7490000	Enhancers	Fetal Brain Female	brain
11	chr4:7489400-7490000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr4:7489600-7489800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:7489600-7490200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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