Variant report

Variant	rs10783237
Chromosome Location	chr12:48602171-48602172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1074174	0.84[ASN][1000 genomes]
rs10783231	0.81[ASN][1000 genomes]
rs10783232	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783233	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10783239	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168449	0.81[ASN][1000 genomes]
rs11168451	0.81[ASN][1000 genomes]
rs11168455	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12822085	0.81[ASN][1000 genomes]
rs1387256	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1489111	0.86[ASN][1000 genomes]
rs1552551	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1906718	0.86[ASN][1000 genomes]
rs2013956	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2130095	0.90[ASN][1000 genomes]
rs2258342	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2409001	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2634699	0.85[ASN][1000 genomes]
rs2634701	0.86[ASN][1000 genomes]
rs2732440	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2732443	0.86[ASN][1000 genomes]
rs2732446	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2732455	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2732474	0.84[ASN][1000 genomes]
rs2732475	0.84[ASN][1000 genomes]
rs2732476	0.83[ASN][1000 genomes]
rs2732477	0.84[ASN][1000 genomes]
rs2732478	0.84[ASN][1000 genomes]
rs2732487	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2932106	0.80[ASN][1000 genomes]
rs2932107	0.86[ASN][1000 genomes]
rs2956704	0.86[ASN][1000 genomes]
rs3989427	0.85[ASN][1000 genomes]
rs4760620	0.83[AMR][1000 genomes]
rs4760623	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4760692	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760698	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580656	0.81[AMR][1000 genomes]
rs6580657	0.84[AMR][1000 genomes]
rs6580660	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7134201	0.86[ASN][1000 genomes]
rs7134565	0.90[ASN][1000 genomes]
rs7294641	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304709	0.81[ASN][1000 genomes]
rs7305418	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7313023	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7315258	0.83[AMR][1000 genomes]
rs7485824	0.81[AMR][1000 genomes]
rs7953726	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs901964	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9645811	0.82[ASN][1000 genomes]
rs987986	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv976031	chr12:48594968-48610975	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv976038	chr12:48596152-48610975	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10783237	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48595600-48609600	Weak transcription	Placenta	Placenta
2	chr12:48596600-48603800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:48597000-48606600	Weak transcription	Left Ventricle	heart
4	chr12:48597000-48606800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:48599200-48606200	Weak transcription	Rectal Smooth Muscle	rectum

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