Variant report

Variant	rs7311445
Chromosome Location	chr12:120054097-120054098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120051910..120054860-chr12:120060682..120062555,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10774503	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10774508	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10849675	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10849676	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10849680	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11064844	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11064845	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11064846	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064847	0.99[EUR][1000 genomes]
rs11064849	0.85[EUR][1000 genomes]
rs11064850	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1109855	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1109857	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12306215	0.82[EUR][1000 genomes]
rs175878	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs1985743	0.94[EUR][1000 genomes]
rs2393522	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2393523	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2393524	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs278123	0.88[CEU][hapmap]
rs278143	0.88[CEU][hapmap]
rs278144	0.87[CEU][hapmap]
rs278145	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs278147	0.88[CEU][hapmap]
rs278148	0.88[CEU][hapmap]
rs278149	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs278151	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs278152	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs278155	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs34500179	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4213	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs6490259	0.82[EUR][1000 genomes]
rs6490267	0.82[GIH][hapmap]
rs7138221	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7138756	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7301592	1.00[CEU][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs7304294	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7310148	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7310536	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311779	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7312321	1.00[CEU][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs739421	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs739422	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7952841	0.82[EUR][1000 genomes]
rs7955119	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7963332	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7972445	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7973772	0.95[EUR][1000 genomes]
rs7978755	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs970095	0.83[GIH][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7311445	PXN	cis	cerebellum	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	chr12:120053000-120055400	Weak transcription	Psoas Muscle	Psoas
3	chr12:120053400-120054200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr12:120053600-120054600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:120053800-120058400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:120054000-120054400	Strong transcription	HSMM	muscle
7	chr12:120054000-120059400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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