Variant report

Variant	rs4491734
Chromosome Location	chr2:125742020-125742021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:125735230..125736960-chr2:125740457..125742933,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10167384	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10180012	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10183325	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11123071	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12612514	0.97[ASN][1000 genomes]
rs12616675	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623135	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12711698	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12711699	0.95[ASN][1000 genomes]
rs13389665	0.97[ASN][1000 genomes]
rs1417115	0.95[ASN][1000 genomes]
rs1417116	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2421345	0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2421352	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2421354	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2421362	0.95[ASN][1000 genomes]
rs34265984	0.97[ASN][1000 genomes]
rs4459740	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4848983	0.97[ASN][1000 genomes]
rs6706816	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6719204	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734972	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737142	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742731	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6742858	0.87[AMR][1000 genomes]
rs7574445	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7574539	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7577654	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7606366	0.95[ASN][1000 genomes]
rs9308654	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834361	chr2:125601081-125810992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv874991	chr2:125692490-125901811	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv834362	chr2:125733921-125907451	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 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	chr2:125740600-125743400	Enhancers	NH-A	brain
2	chr2:125740800-125743400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:125740800-125744000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:125741400-125742400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:125741400-125742600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:125741400-125743000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:125741400-125744000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:125741600-125742600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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