Variant report

Variant	rs2301655
Chromosome Location	chr12:120078577-120078578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1029418	0.82[ASN][1000 genomes]
rs10732608	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10774507	0.88[ASN][1000 genomes]
rs10774509	0.89[ASN][1000 genomes]
rs10849673	0.82[MEX][hapmap]
rs10849685	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs11064856	0.88[ASN][1000 genomes]
rs11064861	0.86[ASN][1000 genomes]
rs11064864	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1123790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154836	0.88[ASN][1000 genomes]
rs12309592	0.95[EUR][1000 genomes]
rs1319529	0.88[ASN][1000 genomes]
rs1858982	0.88[ASN][1000 genomes]
rs1970985	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1985793	0.94[EUR][1000 genomes]
rs2078938	0.88[ASN][1000 genomes]
rs2188711	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301653	0.88[ASN][1000 genomes]
rs2301654	0.88[ASN][1000 genomes]
rs2393549	0.95[EUR][1000 genomes]
rs2393550	0.81[TSI][hapmap]
rs2519536	0.93[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs278124	0.93[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs278130	0.94[TSI][hapmap]
rs2893805	0.86[ASN][1000 genomes]
rs2893806	0.95[EUR][1000 genomes]
rs4766944	0.88[ASN][1000 genomes]
rs4766945	0.88[ASN][1000 genomes]
rs4767834	0.88[ASN][1000 genomes]
rs4767835	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4767836	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767838	0.96[EUR][1000 genomes]
rs6490260	0.81[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.88[ASN][1000 genomes]
rs6490261	0.88[ASN][1000 genomes]
rs6490263	0.86[EUR][1000 genomes]
rs6490264	0.96[EUR][1000 genomes]
rs7138785	0.88[ASN][1000 genomes]
rs7955441	0.85[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7958547	0.88[ASN][1000 genomes]
rs7959425	0.89[ASN][1000 genomes]
rs7962338	0.82[CHB][hapmap]
rs7969977	0.95[EUR][1000 genomes]
rs7980575	0.82[CHB][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2301655	P2RX7	cis	parietal	SCAN
rs2301655	PRKAB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120059200-120083400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:120068600-120082200	Weak transcription	HSMMtube	muscle
3	chr12:120071400-120081600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:120072400-120079600	Strong transcription	HSMM	muscle
5	chr12:120076600-120079200	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:120077600-120080000	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr12:120078400-120078600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:120078400-120079200	Strong transcription	Psoas Muscle	Psoas

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