Variant report

Variant	rs1468914
Chromosome Location	chr2:56480917-56480918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1001471	0.85[JPT][hapmap]
rs10188465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10490397	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11125618	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12613716	0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12623053	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12623278	0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12713316	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12993884	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12994087	0.89[ASN][1000 genomes]
rs12996636	0.90[CHB][hapmap];0.83[CHD][hapmap]
rs13004757	0.90[JPT][hapmap]
rs13012528	0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs13016868	0.90[JPT][hapmap]
rs13025817	0.90[JPT][hapmap]
rs13026289	0.81[AMR][1000 genomes]
rs13403828	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs13429808	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs17047656	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs17047684	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs17047705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2111476	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2193485	0.90[JPT][hapmap]
rs2216325	0.90[CHB][hapmap];0.80[CHD][hapmap]
rs2216332	0.90[JPT][hapmap]
rs35637593	0.90[ASN][1000 genomes]
rs3971875	0.98[ASN][1000 genomes]
rs6710311	0.90[CHB][hapmap]
rs6730327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6756092	0.80[AMR][1000 genomes]
rs72923443	0.80[AFR][1000 genomes]
rs7563888	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7576428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7588401	0.98[ASN][1000 genomes]
rs7590310	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7591193	0.90[ASN][1000 genomes]
rs7591392	0.90[ASN][1000 genomes]
rs759615	0.88[ASW][hapmap];0.80[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7602551	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9653542	0.90[ASN][1000 genomes]
rs969301	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs969302	0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs969303	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1468914	SPTBN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56473000-56487200	Weak transcription	HSMM	muscle
2	chr2:56477000-56483800	Weak transcription	Right Ventricle	heart
3	chr2:56477200-56487400	Weak transcription	Psoas Muscle	Psoas
4	chr2:56480400-56481000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:56480800-56481000	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links