Variant report

Variant	rs10483973
Chromosome Location	chr14:81480897-81480898
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81479552..81481692-chr14:81684705..81687037,3	K562	blood:
2	chr14:81476596..81478510-chr14:81478665..81481342,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10130066	0.81[AMR][1000 genomes]
rs10131915	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847353	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11847606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11851120	0.82[AMR][1000 genomes]
rs11851225	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs13379243	0.88[AMR][1000 genomes]
rs13379251	0.88[AMR][1000 genomes]
rs17111397	1.00[ASN][1000 genomes]
rs2371465	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410258	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs28410717	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs28665858	0.81[AMR][1000 genomes]
rs28750114	0.88[AMR][1000 genomes]
rs34331892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403990	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4617779	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574619	1.00[AMR][1000 genomes]
rs6574620	1.00[AMR][1000 genomes]
rs7152004	1.00[AMR][1000 genomes]
rs7152497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7154960	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161100	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs73349940	0.88[AMR][1000 genomes]
rs73349970	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs74064825	0.81[AMR][1000 genomes]
rs8007755	0.88[AMR][1000 genomes]
rs8008523	0.88[AMR][1000 genomes]
rs8012937	0.88[AMR][1000 genomes]
rs8013119	0.88[AMR][1000 genomes]
rs8023193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
2	nsv1052999	chr14:81468860-81599074	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv542144	chr14:81468860-81599074	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr14:81455800-81492200	Weak transcription	Fetal Thymus	thymus
2	chr14:81468000-81486600	Weak transcription	Thymus	Thymus
3	chr14:81478000-81482600	Weak transcription	Dnd41	blood

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