Variant report

Variant	rs2393522
Chromosome Location	chr12:120055357-120055358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10774503	0.85[EUR][1000 genomes]
rs10774508	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849675	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10849676	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10849680	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11064844	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11064845	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11064846	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11064847	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064849	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064850	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109855	0.85[EUR][1000 genomes]
rs1109857	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12306215	0.86[EUR][1000 genomes]
rs1985743	0.90[EUR][1000 genomes]
rs2393523	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393524	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34500179	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490259	0.86[EUR][1000 genomes]
rs7138221	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138756	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301592	0.85[EUR][1000 genomes]
rs7304294	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7310148	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7310536	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7311445	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7311779	0.86[EUR][1000 genomes]
rs7312321	0.85[EUR][1000 genomes]
rs739421	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs739422	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7952841	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955119	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963332	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7972445	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973772	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978755	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120048600-120059600	Weak transcription	HSMMtube	muscle
2	chr12:120053000-120055400	Weak transcription	Psoas Muscle	Psoas
3	chr12:120053800-120058400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:120054000-120059400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:120054400-120059400	Weak transcription	HSMM	muscle
6	chr12:120054600-120055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:120054600-120055800	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links