Variant report

Variant	rs2732458
Chromosome Location	chr12:48758281-48758282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48746414..48748457-chr12:48755617..48758485,2	K562	blood:
2	chr12:48743415..48745587-chr12:48758145..48761066,2	MCF-7	breast:
3	chr12:48756590..48758883-chr12:48788320..48790739,2	K562	blood:

Variant related genes	Relation type
ENSG00000167528	Chromatin interaction
ENSG00000257792	Chromatin interaction
ENSG00000257735	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1074174	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10783232	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs10783235	0.85[JPT][hapmap]
rs10783239	0.83[EUR][1000 genomes]
rs10783249	0.84[ASN][1000 genomes]
rs10875798	0.86[JPT][hapmap]
rs11168438	0.81[JPT][hapmap]
rs11168455	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs11168458	0.86[JPT][hapmap]
rs11168541	0.84[JPT][hapmap]
rs12426877	0.82[JPT][hapmap]
rs12822431	0.86[JPT][hapmap]
rs12831063	0.86[JPT][hapmap]
rs1489111	0.82[GIH][hapmap];0.87[MEX][hapmap]
rs1552551	0.83[EUR][1000 genomes]
rs1906717	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2054902	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs2130096	0.98[EUR][1000 genomes]
rs2258342	0.87[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2261608	0.86[JPT][hapmap]
rs2291483	0.86[JPT][hapmap]
rs2468950	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2634669	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2634679	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs2634685	0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2732440	0.88[EUR][1000 genomes]
rs2732446	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2732451	0.95[EUR][1000 genomes]
rs2732455	0.87[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2732459	0.93[ASN][1000 genomes]
rs2732460	0.91[EUR][1000 genomes]
rs2732464	0.95[EUR][1000 genomes]
rs2732474	0.87[EUR][1000 genomes]
rs2732475	0.90[EUR][1000 genomes]
rs2732476	0.90[EUR][1000 genomes]
rs2732477	0.87[CEU][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs2732478	0.90[EUR][1000 genomes]
rs2732482	0.91[ASN][1000 genomes]
rs2732487	0.87[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2932090	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932091	0.89[ASN][1000 genomes]
rs3752820	0.86[JPT][hapmap]
rs4760623	0.82[EUR][1000 genomes]
rs4760698	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs60908321	0.95[EUR][1000 genomes]
rs6580660	0.81[CEU][hapmap]
rs7301176	0.86[JPT][hapmap]
rs7485057	0.82[MEX][hapmap]
rs901962	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs901963	1.00[CEU][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs901964	0.82[GIH][hapmap];0.87[MEX][hapmap]
rs987986	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv975606	chr12:48748764-48784504	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2732458	ZNF641	cis	Whole Blood	GTEx
rs2732458	ASB8	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48745600-48762400	Weak transcription	Aorta	Aorta
2	chr12:48746400-48759400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:48746400-48760400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:48746400-48761400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:48746600-48762400	Weak transcription	Lung	lung
6	chr12:48758200-48758400	Enhancers	Skeletal Muscle Male	skeletal muscle

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