Variant report

Variant	rs13077031
Chromosome Location	chr3:155946283-155946284
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	RAD21	chr3:155946253-155946468	K562	blood:	n/a	chr3:155946342-155946349
2	CTCF	chr3:155946258-155946406	K562	blood:	n/a	n/a
3	RAD21	chr3:155946282-155946460	H1-hESC	embryonic stem cell:	n/a	chr3:155946342-155946349
4	RAD21	chr3:155946193-155946440	H1-hESC	embryonic stem cell:	n/a	chr3:155946342-155946349
5	CTCF	chr3:155946280-155946430	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr3:155946161-155946465	K562	blood:	n/a	n/a
7	RAD21	chr3:155946109-155946529	H1-hESC	embryonic stem cell:	n/a	chr3:155946342-155946349

Variant related genes	Relation type
KCNAB1-AS2	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs13062883	0.93[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13065597	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13069492	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13069920	0.93[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13070168	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13070615	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13070956	0.93[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13076854	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13077893	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13079160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081735	0.93[CEU][hapmap]
rs13084227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084675	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085540	0.88[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs13086158	0.82[AMR][1000 genomes]
rs13086539	0.93[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13086617	0.93[CEU][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13086888	0.82[AMR][1000 genomes]
rs13092781	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13094737	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13098116	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13099875	0.93[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1499053	0.93[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2167144	0.91[CEU][hapmap]
rs34582489	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34721485	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35120330	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35186736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336094	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35489883	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35935941	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36023787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36101183	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59260261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441048	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66718940	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67258913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67482406	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6770125	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67899274	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6790987	1.00[JPT][hapmap]
rs68058925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68188495	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7617514	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7627649	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7627831	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7647673	1.00[JPT][hapmap]

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	nsv592085	chr3:155827634-156012679	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13077031	KCNAB1	cis	cerebellum	SCAN
rs13077031	SLC33A1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155936600-155951000	Weak transcription	Aorta	Aorta
2	chr3:155942000-155951200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:155945800-155954400	Weak transcription	Pancreas	Pancrea

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