Variant report

Variant	rs34252038
Chromosome Location	chr3:133490621-133490622
allele	G/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	FOXA1	chr3:133490532-133490789	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:133490518-133490718	HepG2	liver:	n/a	n/a
3	FOXA1	chr3:133490501-133490798	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:133490579-133491978	HepG2	liver:	n/a	n/a
5	MBD4	chr3:133490504-133490945	HepG2	liver:	n/a	n/a
6	FOXA1	chr3:133490543-133490905	HepG2	liver:	n/a	n/a
7	FOXA2	chr3:133490600-133490835	HepG2	liver:	n/a	n/a
8	FOXA1	chr3:133490510-133490913	HepG2	liver:	n/a	n/a
9	HEY1	chr3:133490588-133493039	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:133485083-133500247	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:133490522-133500229	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:133490586-133491551	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:133490561-133492032	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133483093..133485962-chr3:133490216..133491842,2	K562	blood:

Variant related genes	Relation type
TF	TF binding region
ENSG00000091513	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12595	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525889	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830083	0.82[AMR][1000 genomes]
rs1830084	0.82[AMR][1000 genomes]
rs34805309	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3811647	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3811658	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4854760	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854761	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854762	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6439439	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6762719	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6794945	0.81[EUR][1000 genomes]
rs7638018	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177240	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177245	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177247	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177248	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8177252	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177253	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177256	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177259	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177260	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177261	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177262	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177271	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8177272	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8177295	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177297	0.83[ASN][1000 genomes]
rs9813689	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9843728	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9871148	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9882812	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
4	nsv4018	chr3:133485867-133530668	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133483000-133498000	Weak transcription	Esophagus	oesophagus
2	chr3:133483200-133491200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:133483600-133491400	Strong transcription	Brain Anterior Caudate	brain
4	chr3:133484200-133497200	Strong transcription	Brain Angular Gyrus	brain
5	chr3:133484400-133498200	Strong transcription	Liver	Liver
6	chr3:133485200-133499000	Strong transcription	Brain Hippocampus Middle	brain
7	chr3:133485600-133492800	Strong transcription	Brain Cingulate Gyrus	brain
8	chr3:133486000-133499200	Strong transcription	Brain Substantia Nigra	brain
9	chr3:133488200-133493800	Weak transcription	Adipose Nuclei	Adipose
10	chr3:133489800-133493800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:133490000-133493800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:133490000-133498000	Strong transcription	HepG2	liver
13	chr3:133490400-133493800	Weak transcription	Brain Inferior Temporal Lobe	brain

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