Variant report

Variant	rs7952841
Chromosome Location	chr12:120058154-120058155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10774503	0.82[AMR][1000 genomes]
rs10774508	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849680	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11064844	0.84[EUR][1000 genomes]
rs11064845	0.86[EUR][1000 genomes]
rs11064846	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11064847	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064849	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064850	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064873	0.91[CEU][hapmap];0.96[GIH][hapmap];0.84[TSI][hapmap]
rs12306215	0.82[AMR][1000 genomes]
rs175878	0.90[GIH][hapmap];0.83[TSI][hapmap]
rs1978107	0.91[CEU][hapmap];0.96[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs1978108	0.91[CEU][hapmap]
rs2393522	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393523	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393524	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278123	0.84[GIH][hapmap];0.80[TSI][hapmap]
rs278145	0.90[GIH][hapmap];0.85[TSI][hapmap]
rs278149	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs278151	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs278152	0.90[GIH][hapmap];0.84[TSI][hapmap]
rs278155	0.90[GIH][hapmap];0.80[TSI][hapmap]
rs34500179	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4213	0.90[GIH][hapmap];0.87[TSI][hapmap]
rs6490259	0.82[AMR][1000 genomes]
rs6490266	0.81[EUR][1000 genomes]
rs6490267	0.90[GIH][hapmap];0.85[TSI][hapmap]
rs7138221	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138756	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301592	1.00[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes]
rs7310148	0.83[EUR][1000 genomes]
rs7310266	0.91[CEU][hapmap];0.96[GIH][hapmap];0.82[TSI][hapmap]
rs7310536	0.86[EUR][1000 genomes]
rs7311445	0.82[EUR][1000 genomes]
rs7311779	0.82[AMR][1000 genomes]
rs7312321	1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes]
rs7955119	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963332	0.86[EUR][1000 genomes]
rs7972445	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972600	0.91[CEU][hapmap]
rs7973772	1.00[ASN][1000 genomes]
rs7978755	0.86[EUR][1000 genomes]
rs970095	0.86[MEX][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7952841	PRKAB1	cis	cerebellum	SCAN
rs7952841	COQ5	cis	parietal	SCAN

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	chr12:120053800-120058400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:120054000-120059400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:120054400-120059400	Weak transcription	HSMM	muscle
5	chr12:120056400-120064400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:120056800-120058200	Weak transcription	Psoas Muscle	Psoas
7	chr12:120056800-120064600	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links