Variant report

Variant	rs2393550
Chromosome Location	chr12:120098008-120098009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120097434..120099017-chr12:120114704..120116979,2	K562	blood:
2	chr12:120091952..120095767-chr12:120095801..120100386,4	K562	blood:
3	chr12:120097287..120100235-chr12:120117904..120119730,2	K562	blood:
4	chr12:120095088..120098649-chr12:120101954..120106936,4	K562	blood:
5	chr12:120095470..120098203-chr12:120104449..120106936,2	K562	blood:

Variant related genes	Relation type
ENSG00000248636	Chromatin interaction
ENSG00000111725	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10774512	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849687	0.87[ASN][1000 genomes]
rs11064868	0.85[ASN][1000 genomes]
rs11064874	0.83[ASN][1000 genomes]
rs12309592	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1318272	0.81[JPT][hapmap]
rs175877	0.95[TSI][hapmap]
rs175879	0.81[JPT][hapmap];0.95[TSI][hapmap]
rs1966324	0.85[ASN][1000 genomes]
rs1985793	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs202985	0.81[JPT][hapmap]
rs203327	0.95[TSI][hapmap]
rs2301655	0.81[TSI][hapmap]
rs2393549	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs278109	0.95[TSI][hapmap]
rs278124	0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs278128	0.81[JPT][hapmap];0.95[TSI][hapmap]
rs278129	0.81[JPT][hapmap]
rs278130	0.81[JPT][hapmap]
rs278131	0.81[JPT][hapmap]
rs278135	0.81[JPT][hapmap]
rs278142	0.86[TSI][hapmap]
rs2893806	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3213626	0.81[JPT][hapmap]
rs4766946	0.81[JPT][hapmap]
rs4767838	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6490262	0.86[ASN][1000 genomes]
rs6490263	0.91[ASN][1000 genomes]
rs6490264	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6490265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7953776	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7969977	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs904654	0.86[JPT][hapmap]
rs904655	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2393550	PRKAB1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120093600-120100400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:120097600-120098200	Enhancers	GM12878-XiMat	blood
3	chr12:120097600-120098400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:120097600-120098400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:120097600-120098400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:120097600-120100600	Enhancers	K562	blood
7	chr12:120097800-120098200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:120097800-120098400	Enhancers	Primary hematopoietic stem cells	blood

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