Variant report

Variant	rs11064845
Chromosome Location	chr12:120051929-120051930
allele	C/G
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: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10774503	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774508	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10849675	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849676	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849680	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064844	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064846	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11064847	0.95[EUR][1000 genomes]
rs11064849	0.81[EUR][1000 genomes]
rs11064850	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11064873	0.81[TSI][hapmap]
rs1109855	0.86[EUR][1000 genomes]
rs1109857	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306215	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175878	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs1985743	0.89[EUR][1000 genomes]
rs2393522	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2393523	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2393524	0.83[AMR][1000 genomes];0.97[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];0.81[TSI][hapmap]
rs278155	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs34500179	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4213	0.88[CEU][hapmap];0.82[GIH][hapmap]
rs6490259	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490267	0.82[GIH][hapmap]
rs7138221	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7138756	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7301592	1.00[CEU][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304294	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310148	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310536	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7311445	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7311779	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312321	1.00[CEU][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739421	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739422	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952841	0.86[EUR][1000 genomes]
rs7955119	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7963332	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972445	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7973772	0.91[EUR][1000 genomes]
rs7978755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11064845	PXN	cis	cerebellum	SCAN
rs11064845	WSB2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120048600-120059600	Weak transcription	HSMMtube	muscle
2	chr12:120049200-120054000	Weak transcription	HSMM	muscle
3	chr12:120050800-120053800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:120051400-120052400	Weak transcription	HUVEC	blood vessel
5	chr12:120051600-120052400	Enhancers	Psoas Muscle	Psoas
6	chr12:120051600-120053600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:120051800-120053000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:120051800-120053600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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