Variant report

Variant	rs7731022
Chromosome Location	chr5:127088546-127088547
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	chr5:126989537..126992497-chr5:127087410..127089505,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10051341	0.85[EUR][1000 genomes]
rs10054323	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10066599	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10072627	0.82[EUR][1000 genomes]
rs10079426	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1123820	0.83[EUR][1000 genomes]
rs11743016	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1228885	0.89[EUR][1000 genomes]
rs13182486	0.92[EUR][1000 genomes]
rs13188453	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432640	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1654087	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1710276	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248719	0.83[EUR][1000 genomes]
rs248723	0.83[EUR][1000 genomes]
rs248725	0.83[EUR][1000 genomes]
rs248728	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs248729	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs248734	0.86[EUR][1000 genomes]
rs2673762	0.83[EUR][1000 genomes]
rs34347180	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36138701	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36170620	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4835930	0.92[EUR][1000 genomes]
rs790832	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs790833	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs790835	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs813165	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9327450	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	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	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127076000-127094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127088400-127088800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:127088400-127088800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:127088400-127089000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:127088400-127089000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:127088400-127089200	Active TSS	K562	blood

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