Variant report

Variant	rs750136
Chromosome Location	chr4:7502129-7502130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12506309	0.80[EUR][1000 genomes]
rs12640530	0.96[ASN][1000 genomes]
rs12644601	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1807084	0.96[ASN][1000 genomes]
rs34135533	0.83[ASN][1000 genomes]
rs34607342	0.89[ASN][1000 genomes]
rs4234823	0.91[ASN][1000 genomes]
rs4260538	0.96[ASN][1000 genomes]
rs4260539	0.96[ASN][1000 genomes]
rs4388088	0.96[ASN][1000 genomes]
rs4406019	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4455412	0.96[ASN][1000 genomes]
rs4591606	0.87[EUR][1000 genomes]
rs4632658	0.96[ASN][1000 genomes]
rs4689764	0.96[ASN][1000 genomes]
rs4689765	0.96[ASN][1000 genomes]
rs4689766	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4689767	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4689768	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4689769	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62280170	0.89[ASN][1000 genomes]
rs62280181	0.89[ASN][1000 genomes]
rs71647607	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7669829	0.96[ASN][1000 genomes]
rs7670574	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7675750	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7675968	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7692314	0.96[ASN][1000 genomes]
rs9997284	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
12	nsv878568	chr4:7490246-7529367	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv878569	chr4:7496857-7544610	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7499600-7502200	Enhancers	Brain Germinal Matrix	brain
2	chr4:7500200-7503200	Enhancers	Brain Angular Gyrus	brain
3	chr4:7500200-7503200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr4:7500800-7502200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7501000-7502200	Enhancers	Brain Anterior Caudate	brain
6	chr4:7501000-7503400	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:7501200-7503200	Enhancers	Brain Hippocampus Middle	brain
8	chr4:7501200-7503600	Enhancers	Brain Substantia Nigra	brain
9	chr4:7501600-7502600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:7501800-7502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7502000-7503200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:7502000-7503800	Enhancers	Fetal Brain Male	brain
13	chr4:7502000-7504200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links