Variant report

Variant	rs1124148
Chromosome Location	chr9:104250697-104250698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1113384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12683273	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684621	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684773	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685862	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686025	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407868	0.82[ASN][1000 genomes]
rs16920438	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920439	0.82[ASN][1000 genomes]
rs16920479	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1929484	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45572636	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4743465	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357103	0.82[ASN][1000 genomes]
rs56682764	0.82[ASN][1000 genomes]
rs57053192	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59111885	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59837044	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62575809	0.82[ASN][1000 genomes]
rs68067101	0.81[ASN][1000 genomes]
rs72743378	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72743387	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72743390	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72743392	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72743393	0.82[ASN][1000 genomes]
rs72743394	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72743396	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72743397	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745315	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72745318	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7867496	1.00[ASN][1000 genomes]
rs7873168	1.00[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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104249800-104250800	Enhancers	Fetal Heart	heart
2	chr9:104250000-104250800	Enhancers	Fetal Intestine Large	intestine
3	chr9:104250000-104250800	Enhancers	NHEK	skin
4	chr9:104250000-104253600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:104250200-104250800	Enhancers	Pancreatic Islets	Pancreatic Islet

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