Variant report

Variant	rs405430
Chromosome Location	chr9:101473404-101473405
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr9:101473298-101473568	PFSK-1	brain:	n/a	n/a
2	REST	chr9:101471070-101473423	HL-60	blood:	n/a	chr9:101471384-101471394 chr9:101472860-101472869 chr9:101472855-101472864 chr9:101471411-101471424 chr9:101472849-101472869 chr9:101472373-101472391 chr9:101472849-101472869 chr9:101472931-101472944 chr9:101472856-101472869

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101390132..101392094-chr9:101471584..101473721,2	MCF-7	breast:
2	chr9:101242548..101244258-chr9:101471901..101474101,2	MCF-7	breast:

Variant related genes	Relation type
GABBR2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs186808	0.90[EUR][1000 genomes]
rs337526	0.87[EUR][1000 genomes]
rs337528	0.87[EUR][1000 genomes]
rs337529	0.81[ASN][1000 genomes]
rs337532	0.81[ASN][1000 genomes]
rs337533	0.88[EUR][1000 genomes]
rs337534	0.88[EUR][1000 genomes]
rs337537	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs337538	0.90[EUR][1000 genomes]
rs337539	0.96[ASN][1000 genomes]
rs337540	0.84[ASN][1000 genomes]
rs337541	0.93[ASN][1000 genomes]
rs337542	0.84[ASN][1000 genomes]
rs337543	0.84[ASN][1000 genomes]
rs337544	0.90[EUR][1000 genomes]
rs337545	0.90[EUR][1000 genomes]
rs337546	0.81[EUR][1000 genomes]
rs337547	0.90[EUR][1000 genomes]
rs337548	0.90[EUR][1000 genomes]
rs337549	0.82[ASN][1000 genomes]
rs337551	0.89[EUR][1000 genomes]
rs337552	0.89[EUR][1000 genomes]
rs337553	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs337556	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337557	1.00[ASN][1000 genomes]
rs337558	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs337559	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs337560	0.84[ASN][1000 genomes]
rs337561	0.84[ASN][1000 genomes]
rs3808896	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394488	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs415902	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507876	1.00[ASN][1000 genomes]
rs509747	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs526590	0.90[ASN][1000 genomes]
rs529269	1.00[ASN][1000 genomes]
rs529278	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs570138	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv825007	chr9:101467848-101476292	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3338088	chr9:101469131-101473529	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs405430	ANKS6	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101472000-101474000	Weak transcription	Right Atrium	heart

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