Variant report

Variant	rs7973772
Chromosome Location	chr12:120086737-120086738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119856554..119857225-chr12:120086612..120087366,2	MCF-7	breast:
2	chr12:119982745..119983465-chr12:120086574..120087357,2	MCF-7	breast:
3	chr12:120085087..120087240-chr12:120102700..120105114,2	K562	blood:
4	chr12:120079622..120081947-chr12:120086294..120088145,2	K562	blood:
5	chr12:120081733..120084388-chr12:120086601..120089143,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10774503	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs10774508	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849680	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11064844	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11064845	0.91[EUR][1000 genomes]
rs11064846	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11064847	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064849	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064850	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109855	0.83[AMR][1000 genomes]
rs12306215	0.82[AMR][1000 genomes]
rs175878	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs1985743	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2393522	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393523	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393524	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278123	0.88[CEU][hapmap]
rs278143	0.88[CEU][hapmap]
rs278144	0.87[CEU][hapmap]
rs278145	0.88[CEU][hapmap]
rs278147	0.88[CEU][hapmap]
rs278148	0.88[CEU][hapmap]
rs278149	0.88[CEU][hapmap]
rs278151	0.88[CEU][hapmap]
rs278152	0.88[CEU][hapmap]
rs278155	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs34500179	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4213	0.88[CEU][hapmap]
rs6490259	0.82[AMR][1000 genomes]
rs7138221	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138756	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301592	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs7310148	0.96[EUR][1000 genomes]
rs7310536	0.92[EUR][1000 genomes]
rs7311445	0.95[EUR][1000 genomes]
rs7311779	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs7312321	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs739421	0.81[EUR][1000 genomes]
rs739422	0.84[EUR][1000 genomes]
rs7952841	1.00[ASN][1000 genomes]
rs7955119	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963332	0.92[EUR][1000 genomes]
rs7972445	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978755	0.91[EUR][1000 genomes]
rs970095	0.86[MEX][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
rs7973772	PXN	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120083600-120094400	Weak transcription	HSMM	muscle

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