Variant report

Variant	rs9842818
Chromosome Location	chr3:146067740-146067741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1033116	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1033117	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12494007	0.85[JPT][hapmap]
rs12494817	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12495507	0.82[ASN][1000 genomes]
rs12497907	0.82[ASN][1000 genomes]
rs12634107	0.83[ASN][1000 genomes]
rs13064298	0.82[ASN][1000 genomes]
rs13089349	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1512077	0.82[ASN][1000 genomes]
rs1523335	0.90[JPT][hapmap]
rs1608391	0.85[JPT][hapmap]
rs1858387	0.85[ASN][1000 genomes]
rs2137227	0.84[ASN][1000 genomes]
rs2137228	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2137229	0.84[ASN][1000 genomes]
rs2222466	0.85[JPT][hapmap]
rs2867086	0.84[ASN][1000 genomes]
rs2867087	0.85[ASN][1000 genomes]
rs2867865	0.91[ASN][1000 genomes]
rs2867867	0.88[AFR][1000 genomes]
rs2868436	0.85[JPT][hapmap]
rs4380387	0.89[JPT][hapmap]
rs4389447	0.82[ASN][1000 genomes]
rs4444684	0.89[JPT][hapmap]
rs4553948	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4563382	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4681120	0.85[JPT][hapmap]
rs4681317	0.85[ASN][1000 genomes]
rs56004717	0.98[ASN][1000 genomes]
rs58445343	0.82[ASN][1000 genomes]
rs6766800	0.85[JPT][hapmap]
rs6770000	0.82[ASN][1000 genomes]
rs6772169	0.94[ASN][1000 genomes]
rs6794891	0.82[ASN][1000 genomes]
rs6794893	0.82[ASN][1000 genomes]
rs7431927	0.82[ASN][1000 genomes]
rs7619521	0.82[ASN][1000 genomes]
rs7642687	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs907491	0.82[ASN][1000 genomes]
rs940193	0.85[JPT][hapmap]
rs9855283	0.87[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	esv3333601	chr3:145940702-146068210	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3416330	chr3:145941029-146068457	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv998388	chr3:145960954-146087749	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9842818	AADAC	cis	parietal	SCAN
rs9842818	WWTR1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146063800-146068000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:146066200-146067800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:146066200-146069000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:146066800-146067800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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