Variant report

Variant	rs250497
Chromosome Location	chr5:16000639-16000640
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10051749	0.89[ASN][1000 genomes]
rs10055882	0.82[ASN][1000 genomes]
rs10076986	0.89[ASN][1000 genomes]
rs11133826	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12655516	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1502027	0.89[ASN][1000 genomes]
rs168747	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs181833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250489	0.92[ASN][1000 genomes]
rs250490	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs250496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250498	0.82[ASN][1000 genomes]
rs250500	0.82[ASN][1000 genomes]
rs250501	0.87[ASN][1000 genomes]
rs250503	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250504	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250505	0.89[ASN][1000 genomes]
rs2599503	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32823	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs32824	0.86[ASN][1000 genomes]
rs32825	0.87[ASN][1000 genomes]
rs32826	0.82[ASN][1000 genomes]
rs32827	0.92[ASN][1000 genomes]
rs32828	0.89[ASN][1000 genomes]
rs32829	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32830	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4701645	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4701646	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4702120	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6859383	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830216	chr5:15860662-16060420	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv427712	chr5:15883439-16055856	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15995600-16001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:16000400-16001200	Enhancers	Adipose Nuclei	Adipose
3	chr5:16000600-16002200	Weak transcription	Fetal Heart	heart

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