Variant report

Variant	rs72748402
Chromosome Location	chr9:94966284-94966285
allele	C/T
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	POLR2A	chr9:94966277-94966327	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000236115	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1058726	0.83[EUR][1000 genomes]
rs1058751	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1175923	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1175930	0.83[EUR][1000 genomes]
rs1175931	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787696	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11788610	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789578	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11792542	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11793505	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2084289	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs41280213	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs41280215	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs472163	0.81[EUR][1000 genomes]
rs4743866	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743867	0.83[EUR][1000 genomes]
rs4743868	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4744124	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4744125	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs501814	0.82[EUR][1000 genomes]
rs556155	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55894730	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56374228	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72748400	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895639	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409464	0.81[EUR][1000 genomes]
rs9409465	0.92[AFR][1000 genomes]
rs9409466	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9409467	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409659	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409660	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409661	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409662	0.92[AFR][1000 genomes]
rs9409663	0.92[AFR][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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94954400-94971000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:94959400-94969000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:94959400-94971200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94959400-94973200	Weak transcription	Pancreas	Pancrea
5	chr9:94959600-94969800	Weak transcription	Osteobl	bone
6	chr9:94959600-94970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:94960600-94970400	Weak transcription	Hela-S3	cervix
8	chr9:94966000-94973400	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links