Variant report

Variant	rs2111476
Chromosome Location	chr2:56491779-56491780
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1001471	0.84[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10188465	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10490397	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10490400	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10490401	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11125618	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs12613716	0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs12621959	0.85[ASN][1000 genomes]
rs12623053	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs12623278	0.90[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713316	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12993884	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12994087	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12996636	0.85[CHB][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13003301	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13004757	0.95[JPT][hapmap];0.84[MEX][hapmap];0.86[ASN][1000 genomes]
rs13012528	0.90[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13016868	0.95[JPT][hapmap];0.84[MEX][hapmap];0.86[ASN][1000 genomes]
rs13025817	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs13026289	0.84[ASN][1000 genomes]
rs13403828	0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs13429808	0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1468914	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs17047656	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17047684	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17047705	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2193485	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2216325	0.85[CHB][hapmap]
rs2216332	0.95[JPT][hapmap];0.89[MEX][hapmap];0.85[ASN][1000 genomes]
rs35637593	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57041406	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710311	0.85[CHB][hapmap]
rs6730327	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7563888	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7576428	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7576924	0.80[TSI][hapmap]
rs7590310	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7591193	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7591392	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs759615	0.80[CHB][hapmap]
rs7602551	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs9653542	0.86[ASN][1000 genomes]
rs969301	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs969302	0.90[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs969303	0.85[CHB][hapmap];0.85[JPT][hapmap]

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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56486600-56505000	Weak transcription	Left Ventricle	heart
2	chr2:56487600-56492200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56487800-56506000	Weak transcription	Psoas Muscle	Psoas
4	chr2:56488000-56493800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:56488000-56514000	Weak transcription	HSMM	muscle
6	chr2:56490600-56492000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:56490800-56491800	Enhancers	NHEK	skin
8	chr2:56491000-56491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:56491200-56492200	Enhancers	HMEC	breast
10	chr2:56491600-56492000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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