Variant report

Variant	rs59048491
Chromosome Location	chr11:107649731-107649732
allele	A/G
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	MAFF	chr11:107649478-107650115	HepG2	liver:	n/a	chr11:107649990-107650004 chr11:107649660-107649678
2	MAFK	chr11:107649492-107649842	Hela-S3	cervix:	n/a	chr11:107649665-107649676 chr11:107649656-107649676 chr11:107649661-107649676 chr11:107649666-107649677 chr11:107649666-107649677 chr11:107649661-107649677 chr11:107649664-107649678
3	MAFK	chr11:107649475-107650053	IMR90	lung:	n/a	chr11:107649665-107649676 chr11:107649656-107649676 chr11:107649661-107649676 chr11:107649666-107649677 chr11:107649666-107649677 chr11:107649661-107649677 chr11:107649664-107649678 chr11:107649987-107650007 chr11:107649989-107650005 chr11:107649990-107650004
4	MAFK	chr11:107649480-107650096	K562	blood:	n/a	chr11:107649665-107649676 chr11:107649656-107649676 chr11:107649661-107649676 chr11:107649666-107649677 chr11:107649666-107649677 chr11:107649661-107649677 chr11:107649664-107649678 chr11:107649987-107650007 chr11:107649989-107650005 chr11:107649990-107650004
5	IRF1	chr11:107649607-107649809	K562	blood:	n/a	n/a
6	MAFK	chr11:107649477-107650145	HepG2	liver:	n/a	chr11:107649665-107649676 chr11:107649656-107649676 chr11:107649661-107649676 chr11:107649666-107649677 chr11:107649666-107649677 chr11:107649661-107649677 chr11:107649664-107649678 chr11:107649987-107650007 chr11:107649989-107650005 chr11:107649990-107650004
7	MAFK	chr11:107649486-107649900	H1-hESC	embryonic stem cell:	n/a	chr11:107649665-107649676 chr11:107649656-107649676 chr11:107649661-107649676 chr11:107649666-107649677 chr11:107649666-107649677 chr11:107649661-107649677 chr11:107649664-107649678
8	MAFK	chr11:107649484-107650146	HepG2	liver:	n/a	chr11:107649665-107649676 chr11:107649656-107649676 chr11:107649661-107649676 chr11:107649666-107649677 chr11:107649666-107649677 chr11:107649661-107649677 chr11:107649664-107649678 chr11:107649987-107650007 chr11:107649989-107650005 chr11:107649990-107650004
9	MAFK	chr11:107649353-107650001	GM12878	blood:	n/a	chr11:107649665-107649676 chr11:107649656-107649676 chr11:107649661-107649676 chr11:107649666-107649677 chr11:107649666-107649677 chr11:107649661-107649677 chr11:107649664-107649678
10	MAFF	chr11:107649479-107649999	K562	blood:	n/a	chr11:107649660-107649678
11	KAP1	chr11:107649489-107650123	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000214305	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12289394	1.00[EUR][1000 genomes]
rs12296042	1.00[EUR][1000 genomes]
rs1242711	1.00[EUR][1000 genomes]
rs17107554	1.00[EUR][1000 genomes]
rs28414916	1.00[EUR][1000 genomes]
rs471794	1.00[EUR][1000 genomes]
rs507416	1.00[EUR][1000 genomes]
rs515624	1.00[EUR][1000 genomes]
rs56132728	1.00[EUR][1000 genomes]
rs600815	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61473755	1.00[EUR][1000 genomes]
rs73546814	1.00[EUR][1000 genomes]
rs73546826	1.00[EUR][1000 genomes]
rs9804577	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv556378	chr11:107621538-107671626	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv556379	chr11:107627609-107671626	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv527748	chr11:107627852-107670228	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv556380	chr11:107644296-107671626	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
16	nsv556381	chr11:107644296-107684371	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	esv2760411	chr11:107646932-107672045	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv1036874	chr11:107648305-107679828	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
19	nsv520229	chr11:107649026-107670228	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
20	nsv898379	chr11:107649026-107673300	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
21	nsv468867	chr11:107649026-107697633	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
22	nsv556382	chr11:107649026-107697633	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107648400-107656000	Weak transcription	GM12878-XiMat	blood
2	chr11:107649600-107649800	Enhancers	Fetal Kidney	kidney
3	chr11:107649600-107650800	Enhancers	Liver	Liver

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