Variant report

Variant	rs1375612
Chromosome Location	chr2:142878385-142878386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10193058	0.86[JPT][hapmap]
rs10496913	0.82[ASN][1000 genomes]
rs10496914	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10803487	0.83[CHB][hapmap]
rs11680286	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11688838	0.84[CHB][hapmap]
rs12472834	0.82[ASN][1000 genomes]
rs12988578	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13024219	0.85[ASN][1000 genomes]
rs13036224	0.83[CHB][hapmap]
rs1375611	0.84[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs1375613	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1375614	0.82[ASN][1000 genomes]
rs1449475	0.84[CHB][hapmap]
rs1449477	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1449478	0.83[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap]
rs1449482	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs1449489	0.84[CHB][hapmap]
rs1449490	0.84[CHB][hapmap]
rs1449498	0.83[CHB][hapmap]
rs1449499	0.83[CHB][hapmap]
rs1449501	0.83[CHB][hapmap]
rs1449503	0.83[CHB][hapmap]
rs1449504	0.84[CHB][hapmap]
rs1868543	0.83[CHB][hapmap]
rs1868544	0.84[CHB][hapmap]
rs1900933	0.83[CHB][hapmap]
rs1900936	0.85[JPT][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs2029142	0.83[CHB][hapmap]
rs2060592	0.89[CHB][hapmap]
rs2218734	0.84[CHB][hapmap]
rs2290140	0.85[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs2381203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662373	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs4662396	0.85[ASN][1000 genomes]
rs62155638	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707136	0.82[ASN][1000 genomes]
rs6754907	0.84[CHB][hapmap]
rs7566250	0.84[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap]
rs7598886	0.81[CHB][hapmap]
rs7605112	0.84[CHB][hapmap]
rs957376	0.83[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap]
rs9941495	0.84[CHB][hapmap]

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	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875254	chr2:142833327-142931146	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142870000-142878400	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:142877400-142878400	Enhancers	Brain Anterior Caudate	brain
3	chr2:142877800-142879200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:142877800-142884000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:142878000-142878400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:142878200-142878600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:142878200-142879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:142878200-142886800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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