Variant report

Variant	rs338622
Chromosome Location	chr5:113766546-113766547
allele	A/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	RELA	chr5:113766160-113766684	GM12878	blood:	n/a	n/a
2	CUX1	chr5:113766246-113766764	GM12878	blood:	n/a	n/a
3	RUNX3	chr5:113766159-113766664	GM12878	blood:	n/a	n/a
4	NFIC	chr5:113766066-113766718	GM12878	blood:	n/a	n/a
5	FOXM1	chr5:113766196-113766632	GM12878	blood:	n/a	n/a
6	IKZF1	chr5:113766237-113766597	GM12878	blood:	n/a	n/a
7	EBF1	chr5:113766174-113766577	GM12878	blood:	n/a	n/a
8	EP300	chr5:113766194-113766684	GM12878	blood:	n/a	n/a
9	EP300	chr5:113766219-113766621	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
KCNN2	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs163210	0.85[EUR][1000 genomes]
rs163211	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs168090	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2900084	0.84[ASN][1000 genomes]
rs337683	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337684	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337685	0.81[ASN][1000 genomes]
rs337689	0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs337691	0.81[ASN][1000 genomes]
rs337695	0.81[ASN][1000 genomes]
rs337699	0.88[ASN][1000 genomes]
rs337704	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs337705	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs337707	0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337708	0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs337709	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs337710	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337711	0.86[EUR][1000 genomes]
rs337712	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337714	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338623	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs338625	0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338663	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs338664	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs338666	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36947	0.88[ASN][1000 genomes]
rs388084	0.92[ASN][1000 genomes]
rs4705667	0.84[ASN][1000 genomes]
rs6859284	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs921981	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr5:113756400-113770000	Weak transcription	Fetal Heart	heart
2	chr5:113756600-113770200	Weak transcription	Liver	Liver
3	chr5:113760000-113770000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:113760200-113771600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:113761600-113769800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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