Variant report

Variant	rs74089163
Chromosome Location	chr12:48575794-48575795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:48575742-48575831	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr12:48575766-48575935	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
C12orf68	TF binding region
ASB8	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1004746	0.85[EUR][1000 genomes]
rs1004806	0.85[EUR][1000 genomes]
rs10128967	1.00[ASN][1000 genomes]
rs10128968	1.00[ASN][1000 genomes]
rs10506276	0.95[EUR][1000 genomes]
rs10506277	0.85[EUR][1000 genomes]
rs10506279	1.00[ASN][1000 genomes]
rs11830378	0.95[EUR][1000 genomes]
rs11830617	0.82[EUR][1000 genomes]
rs11830864	0.89[EUR][1000 genomes]
rs11833380	0.82[EUR][1000 genomes]
rs11835938	1.00[ASN][1000 genomes]
rs11837419	0.82[EUR][1000 genomes]
rs11837548	0.82[EUR][1000 genomes]
rs11837571	0.82[EUR][1000 genomes]
rs12301562	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316682	1.00[ASN][1000 genomes]
rs17122802	0.95[EUR][1000 genomes]
rs17224674	0.85[EUR][1000 genomes]
rs17224828	0.95[EUR][1000 genomes]
rs17225198	0.82[EUR][1000 genomes]
rs17823193	0.95[EUR][1000 genomes]
rs17823313	0.89[EUR][1000 genomes]
rs17823415	0.89[EUR][1000 genomes]
rs17823565	0.82[EUR][1000 genomes]
rs2228501	0.82[EUR][1000 genomes]
rs2450995	1.00[ASN][1000 genomes]
rs3936179	0.82[EUR][1000 genomes]
rs4075914	0.82[EUR][1000 genomes]
rs41291961	0.82[EUR][1000 genomes]
rs41291963	1.00[ASN][1000 genomes]
rs41291967	1.00[ASN][1000 genomes]
rs55638557	0.82[EUR][1000 genomes]
rs55654871	0.89[EUR][1000 genomes]
rs55682541	0.82[EUR][1000 genomes]
rs55752728	0.82[EUR][1000 genomes]
rs55820056	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890195	0.88[EUR][1000 genomes]
rs55894137	0.88[EUR][1000 genomes]
rs55945889	0.88[EUR][1000 genomes]
rs56187356	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56205628	0.85[EUR][1000 genomes]
rs56288528	0.82[EUR][1000 genomes]
rs56378908	0.85[EUR][1000 genomes]
rs57956448	1.00[ASN][1000 genomes]
rs58317398	1.00[ASN][1000 genomes]
rs60209369	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60679254	1.00[ASN][1000 genomes]
rs7138353	0.82[EUR][1000 genomes]
rs7297558	0.82[EUR][1000 genomes]
rs7301153	0.81[EUR][1000 genomes]
rs7301509	0.82[EUR][1000 genomes]
rs7307383	0.82[EUR][1000 genomes]
rs7307676	0.82[EUR][1000 genomes]
rs7307874	0.82[EUR][1000 genomes]
rs7310715	0.82[EUR][1000 genomes]
rs7310935	0.82[EUR][1000 genomes]
rs73304917	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089110	1.00[ASN][1000 genomes]
rs74089155	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74089159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs74089163	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48571200-48576200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48571400-48576000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48575200-48576000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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