Variant report

Variant	rs4743350
Chromosome Location	chr9:102177648-102177649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10116784	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10819666	0.82[AFR][1000 genomes]
rs10819667	0.82[AFR][1000 genomes]
rs10988808	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10988815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10988816	0.81[AFR][1000 genomes]
rs10988820	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10988821	0.88[ASN][1000 genomes]
rs12238127	0.81[AFR][1000 genomes]
rs2416768	0.82[AFR][1000 genomes]
rs4743345	0.81[AFR][1000 genomes]
rs4743346	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743347	0.81[AFR][1000 genomes]
rs4743348	0.81[AFR][1000 genomes]
rs4743349	0.81[AFR][1000 genomes]
rs55750347	0.82[AFR][1000 genomes]
rs57483311	0.82[AFR][1000 genomes]
rs586563	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs608510	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs644547	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7027953	0.82[AFR][1000 genomes]
rs7032399	0.82[AFR][1000 genomes]
rs7032541	0.82[AFR][1000 genomes]
rs7040144	0.81[AFR][1000 genomes]
rs7042668	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7042691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73495500	0.83[AFR][1000 genomes]
rs7855403	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs880597	0.82[AFR][1000 genomes]
rs9886848	0.89[CEU][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][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	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831667	chr9:102068047-102285691	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4743350	C9orf125	cis	parietal	SCAN
rs4743350	ERP44	cis	cerebellum	SCAN
rs4743350	FBP2	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102173600-102177800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:102174000-102178600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:102174200-102178400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:102177000-102178000	Weak transcription	NHDF-Ad	bronchial
5	chr9:102177600-102177800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:102177600-102179000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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