Variant report

Variant	rs7295247
Chromosome Location	chr12:49697873-49697874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49692836..49694938-chr12:49697087..49698984,2	K562	blood:
2	chr12:49694201..49698333-chr12:49759487..49762379,3	K562	blood:
3	chr12:49687213..49689374-chr12:49696381..49698415,2	K562	blood:
4	chr12:49658673..49660328-chr12:49695656..49698385,2	K562	blood:
5	chr12:49696884..49699864-chr12:49712241..49714234,3	K562	blood:
6	chr12:49689591..49692214-chr12:49696877..49699576,2	K562	blood:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10506284	1.00[CHB][hapmap]
rs10875946	1.00[ASN][1000 genomes]
rs10875948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11168967	0.94[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168970	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168971	1.00[ASN][1000 genomes]
rs11168972	1.00[ASN][1000 genomes]
rs11168973	0.93[CEU][hapmap]
rs11168975	1.00[JPT][hapmap]
rs11169016	1.00[CHB][hapmap]
rs11169048	1.00[CHB][hapmap]
rs11834161	1.00[CHB][hapmap]
rs11835037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs11835303	1.00[JPT][hapmap]
rs11837234	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12301545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301632	1.00[CHB][hapmap]
rs12304800	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306118	1.00[CHB][hapmap]
rs12313435	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315996	1.00[CHB][hapmap]
rs12317532	0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12322335	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322783	0.93[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs12322798	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580931	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12581343	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs12581428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2070760	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2070761	1.00[ASN][1000 genomes]
rs2230550	0.93[ASN][1000 genomes]
rs2236746	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272478	1.00[CHB][hapmap]
rs28493849	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28543370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28798494	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28808573	0.82[AMR][1000 genomes]
rs28823960	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28857010	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088008	1.00[JPT][hapmap]
rs34791911	1.00[ASN][1000 genomes]
rs3847764	1.00[CHB][hapmap]
rs3898446	1.00[ASN][1000 genomes]
rs4243545	1.00[JPT][hapmap]
rs4898516	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898517	1.00[ASN][1000 genomes]
rs4898519	1.00[JPT][hapmap]
rs57451017	1.00[ASN][1000 genomes]
rs57755392	1.00[ASN][1000 genomes]
rs60174686	0.82[ASN][1000 genomes]
rs61023481	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61455481	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580707	1.00[CHB][hapmap]
rs6580709	1.00[CHB][hapmap]
rs6580716	1.00[CHB][hapmap]
rs67236923	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs67309388	0.83[AMR][1000 genomes]
rs7136538	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136945	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139061	1.00[CHB][hapmap]
rs7294648	1.00[CHB][hapmap]
rs7294873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294973	1.00[CHB][hapmap]
rs7295162	1.00[CHB][hapmap]
rs7309997	1.00[CHB][hapmap]
rs73112143	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7342318	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342365	1.00[CHB][hapmap]
rs7342370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342384	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7398252	1.00[ASN][1000 genomes]
rs7955541	1.00[CHB][hapmap]
rs7962951	1.00[CHB][hapmap]
rs7969099	1.00[CHB][hapmap]
rs7975431	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976165	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7295247	PRKAG1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49695800-49700200	Weak transcription	Placenta	Placenta
2	chr12:49696000-49699600	Weak transcription	K562	blood
3	chr12:49697400-49698200	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr12:49697800-49698000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:49697800-49698200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:49697800-49698200	Enhancers	HSMM	muscle
7	chr12:49697800-49698200	Flanking Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links