Variant report

Variant	rs10783239
Chromosome Location	chr12:48616801-48616802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1074174	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783232	0.84[AMR][1000 genomes]
rs10783233	0.86[AMR][1000 genomes]
rs10783237	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168455	0.85[AMR][1000 genomes]
rs1387256	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1489111	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1552551	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1906718	0.93[ASN][1000 genomes]
rs2013956	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2054902	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2130095	0.96[ASN][1000 genomes]
rs2130096	0.85[EUR][1000 genomes]
rs2258342	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2409001	0.91[AMR][1000 genomes]
rs2468950	0.81[EUR][1000 genomes]
rs2634669	0.83[EUR][1000 genomes]
rs2634679	0.88[EUR][1000 genomes]
rs2634699	0.91[ASN][1000 genomes]
rs2634701	0.92[ASN][1000 genomes]
rs2732440	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2732443	0.92[ASN][1000 genomes]
rs2732446	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2732451	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2732455	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732458	0.83[EUR][1000 genomes]
rs2732460	0.84[EUR][1000 genomes]
rs2732464	0.88[EUR][1000 genomes]
rs2732474	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2732475	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2732476	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2732477	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2732478	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2732487	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932090	0.83[EUR][1000 genomes]
rs2932106	0.86[ASN][1000 genomes]
rs2932107	0.92[ASN][1000 genomes]
rs2956704	0.93[ASN][1000 genomes]
rs3989427	0.90[ASN][1000 genomes]
rs4760620	0.81[AMR][1000 genomes]
rs4760623	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760692	0.85[AMR][1000 genomes]
rs4760698	0.85[AMR][1000 genomes]
rs60908321	0.88[EUR][1000 genomes]
rs6580657	0.82[AMR][1000 genomes]
rs6580660	0.85[AMR][1000 genomes]
rs7134201	0.93[ASN][1000 genomes]
rs7134565	0.96[ASN][1000 genomes]
rs7294641	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304709	0.87[ASN][1000 genomes]
rs7305418	0.86[AMR][1000 genomes]
rs7313023	0.86[AMR][1000 genomes]
rs7315258	0.81[AMR][1000 genomes]
rs7953726	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs901962	0.85[EUR][1000 genomes]
rs901964	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9645811	0.88[ASN][1000 genomes]
rs987986	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10783239	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48612000-48629600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:48612200-48635600	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:48615600-48619600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:48615800-48619200	Weak transcription	Rectal Smooth Muscle	rectum

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