Variant report

Variant	rs7718640
Chromosome Location	chr5:126822042-126822043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs17164935	0.85[CEU][hapmap];0.89[GIH][hapmap]
rs17444885	0.85[CEU][hapmap];0.96[EUR][1000 genomes]
rs17604615	0.85[CEU][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap]
rs17604665	0.85[CEU][hapmap]
rs17604882	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs17604889	0.85[CEU][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes]
rs17604946	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs17673474	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs17673517	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs17673685	0.85[CEU][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes]
rs17673995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763722	1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[ASN][1000 genomes]
rs17839690	0.83[EUR][1000 genomes]
rs17839697	0.87[CHD][hapmap]
rs3812053	0.95[EUR][1000 genomes]
rs3812054	0.85[CHD][hapmap];0.93[GIH][hapmap]
rs41298308	0.95[EUR][1000 genomes]
rs41298312	0.95[EUR][1000 genomes]
rs57256097	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595768	0.87[CHD][hapmap];0.93[GIH][hapmap]
rs6882034	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790405	0.94[EUR][1000 genomes]
rs72790408	0.94[EUR][1000 genomes]
rs72790410	0.94[EUR][1000 genomes]
rs72790411	0.94[EUR][1000 genomes]
rs72790412	0.94[EUR][1000 genomes]
rs72790417	0.89[EUR][1000 genomes]
rs72790418	0.95[EUR][1000 genomes]
rs72790419	0.95[EUR][1000 genomes]
rs72790428	0.95[EUR][1000 genomes]
rs72790430	0.95[EUR][1000 genomes]
rs72790433	0.95[EUR][1000 genomes]
rs72790438	0.95[EUR][1000 genomes]
rs72790444	0.95[EUR][1000 genomes]
rs72790451	0.95[EUR][1000 genomes]
rs72790460	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790468	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790483	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790485	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790487	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786108	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7730171	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731380	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126817200-126824400	Weak transcription	Aorta	Aorta
3	chr5:126821600-126823000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:126821800-126822400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:126821800-126822600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126821800-126822600	Enhancers	Brain Hippocampus Middle	brain
7	chr5:126822000-126822400	Enhancers	Brain Angular Gyrus	brain
8	chr5:126822000-126822400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:126822000-126822600	Enhancers	Brain Cingulate Gyrus	brain
10	chr5:126822000-126822600	Enhancers	Brain Substantia Nigra	brain

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