Variant report

Variant	rs9947494
Chromosome Location	chr18:45481695-45481696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10432199	0.82[EUR][1000 genomes]
rs10853560	0.81[ASN][1000 genomes]
rs11082638	0.83[ASN][1000 genomes]
rs11082639	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11874858	0.81[AMR][1000 genomes]
rs12604337	0.88[EUR][1000 genomes]
rs12605333	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13381619	0.81[ASN][1000 genomes]
rs1573363	0.81[EUR][1000 genomes]
rs17741998	0.82[ASN][1000 genomes]
rs2000708	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2000709	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2096932	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2096933	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4939672	0.89[EUR][1000 genomes]
rs4940109	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4940110	0.87[EUR][1000 genomes]
rs4940120	0.82[EUR][1000 genomes]
rs4940127	0.83[AMR][1000 genomes]
rs6507790	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7228393	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7231538	0.83[ASN][1000 genomes]
rs7243502	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs729112	0.80[EUR][1000 genomes]
rs747952	0.83[ASN][1000 genomes]
rs747953	0.83[ASN][1000 genomes]
rs765213	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8084915	0.83[ASN][1000 genomes]
rs8095519	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8097580	0.83[ASN][1000 genomes]
rs8097925	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8099127	0.83[ASN][1000 genomes]
rs948601	0.89[EUR][1000 genomes]
rs948604	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9961652	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9966964	0.83[AMR][1000 genomes];0.82[EUR][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	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45478000-45490800	Weak transcription	Pancreas	Pancrea
2	chr18:45478600-45482000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr18:45478800-45481800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:45480000-45481800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:45480000-45485200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:45480400-45481800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:45480400-45483000	Weak transcription	Aorta	Aorta
8	chr18:45480400-45494000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:45480600-45482200	Enhancers	Dnd41	blood

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