Variant report

Variant	rs727989
Chromosome Location	chr7:86413597-86413598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10234440	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs10246519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10254088	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs10266758	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10487052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12690900	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12704288	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13229442	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13231431	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468413	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs2158786	0.91[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs2237561	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2237562	0.81[CHB][hapmap]
rs2250784	0.82[EUR][1000 genomes]
rs2282965	0.87[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs2299226	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6465084	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6961677	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs6965999	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970642	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720025	0.88[EUR][1000 genomes]
rs723630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs723631	0.91[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs7341512	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7804907	0.81[CHB][hapmap]
rs7806785	0.81[CHB][hapmap]
rs970186	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs982339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831053	chr7:86268171-86440999	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 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	chr7:86399000-86415400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:86399800-86415400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:86406400-86416200	Weak transcription	Fetal Heart	heart
4	chr7:86408000-86415600	Weak transcription	Fetal Brain Female	brain
5	chr7:86408400-86413600	Weak transcription	Brain Substantia Nigra	brain
6	chr7:86412600-86414400	Enhancers	Brain Anterior Caudate	brain
7	chr7:86412600-86415000	Enhancers	GM12878-XiMat	blood
8	chr7:86413000-86414000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:86413000-86414400	Enhancers	Brain Angular Gyrus	brain
10	chr7:86413000-86414400	Enhancers	Brain Hippocampus Middle	brain
11	chr7:86413200-86414000	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:86413200-86414400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr7:86413400-86413600	Enhancers	Brain Germinal Matrix	brain

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