Variant report

Variant	rs11735530
Chromosome Location	chr4:69165603-69165604
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	FOXA1	chr4:69165536-69166341	HepG2	liver:	n/a	n/a
2	BACH1	chr4:69165597-69165751	K562	blood:	n/a	n/a
3	FOXA1	chr4:69165548-69166329	HepG2	liver:	n/a	n/a
4	MAFF	chr4:69165467-69165840	K562	blood:	n/a	chr4:69165645-69165663
5	BACH1	chr4:69165562-69165682	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr4:69165469-69165843	HepG2	liver:	n/a	chr4:69165647-69165663 chr4:69165648-69165668 chr4:69165652-69165662 chr4:69165648-69165659 chr4:69165652-69165661 chr4:69165647-69165658 chr4:69165646-69165660 chr4:69165647-69165658 chr4:69165647-69165662 chr4:69165648-69165659 chr4:69165651-69165665
7	FOXA2	chr4:69165295-69166470	HepG2	liver:	n/a	n/a
8	MAFF	chr4:69165477-69165890	HepG2	liver:	n/a	chr4:69165645-69165663
9	MAFK	chr4:69165478-69165817	K562	blood:	n/a	chr4:69165647-69165663 chr4:69165648-69165668 chr4:69165652-69165662 chr4:69165648-69165659 chr4:69165652-69165661 chr4:69165647-69165658 chr4:69165646-69165660 chr4:69165647-69165658 chr4:69165647-69165662 chr4:69165648-69165659 chr4:69165651-69165665
10	NFIC	chr4:69165509-69166256	HepG2	liver:	n/a	chr4:69165735-69165751
11	MAFK	chr4:69165484-69165830	IMR90	lung:	n/a	chr4:69165647-69165663 chr4:69165648-69165668 chr4:69165652-69165662 chr4:69165648-69165659 chr4:69165652-69165661 chr4:69165647-69165658 chr4:69165646-69165660 chr4:69165647-69165658 chr4:69165647-69165662 chr4:69165648-69165659 chr4:69165651-69165665
12	MAFK	chr4:69165473-69165838	HepG2	liver:	n/a	chr4:69165647-69165663 chr4:69165648-69165668 chr4:69165652-69165662 chr4:69165648-69165659 chr4:69165652-69165661 chr4:69165647-69165658 chr4:69165646-69165660 chr4:69165647-69165658 chr4:69165647-69165662 chr4:69165648-69165659 chr4:69165651-69165665
13	MYBL2	chr4:69165453-69166267	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69163114..69165945-chr4:69212940..69216263,3	K562	blood:

Variant related genes	Relation type
ENSG00000249531	TF binding region
ENSG00000083896	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10003465	0.81[EUR][1000 genomes]
rs10005832	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10471153	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866204	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11131746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732554	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12331971	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118902	0.88[AMR][1000 genomes]
rs13121372	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127027	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13145544	0.81[EUR][1000 genomes]
rs13148330	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1406695	0.87[EUR][1000 genomes]
rs1406696	0.87[EUR][1000 genomes]
rs17089240	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17089241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1715086	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730872	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1730875	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880183	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1919905	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1962172	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140519	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2319790	0.88[AMR][1000 genomes]
rs2319887	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28692777	0.86[AMR][1000 genomes]
rs34032921	0.87[EUR][1000 genomes]
rs34186169	0.88[EUR][1000 genomes]
rs34223548	0.87[EUR][1000 genomes]
rs34265565	0.82[EUR][1000 genomes]
rs34474886	0.81[EUR][1000 genomes]
rs34527218	0.87[EUR][1000 genomes]
rs34896019	0.87[EUR][1000 genomes]
rs35051311	0.88[EUR][1000 genomes]
rs35572241	0.88[AMR][1000 genomes]
rs4860292	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4860927	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4860932	0.85[EUR][1000 genomes]
rs4860933	0.87[EUR][1000 genomes]
rs4860934	0.87[EUR][1000 genomes]
rs4860935	0.84[EUR][1000 genomes]
rs56264769	0.88[AMR][1000 genomes]
rs62316198	0.88[AMR][1000 genomes]
rs62316204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6552179	0.83[ASN][1000 genomes]
rs6822778	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7658151	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7671950	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7672364	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7678448	0.82[EUR][1000 genomes]
rs7696268	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs953794	1.00[ASN][1000 genomes]
rs953795	1.00[ASN][1000 genomes]
rs9990842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9991215	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv537132	chr4:69149648-69482831	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11735530	UTP3	cis	cerebellum	SCAN
rs11735530	YTHDC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69165200-69167000	Enhancers	HepG2	liver

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