Variant report

Variant	rs11045254
Chromosome Location	chr12:20603641-20603642
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	MAFK	chr12:20603527-20604061	Hela-S3	cervix:	n/a	chr12:20604022-20604033 chr12:20603693-20603708 chr12:20604017-20604033 chr12:20604022-20604033 chr12:20604020-20604034
2	POLR2A	chr12:20603561-20604072	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr12:20603531-20603879	HepG2	liver:	n/a	chr12:20603693-20603708
4	FOS	chr12:20603581-20603877	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr12:20603572-20604083	HepG2	liver:	n/a	chr12:20604022-20604033 chr12:20603693-20603708 chr12:20604017-20604033 chr12:20604022-20604033 chr12:20604020-20604034
6	MAFK	chr12:20603528-20603892	IMR90	lung:	n/a	chr12:20603693-20603708
7	MAFF	chr12:20603542-20603888	HepG2	liver:	n/a	chr12:20603691-20603709

Variant related genes	Relation type
UBE2L2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10841526	1.00[ASN][1000 genomes]
rs11609734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55716363	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186852	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56256297	0.83[AMR][1000 genomes]
rs56293460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59843471	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61453719	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066420	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066448	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066450	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066451	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485410	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats 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	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20588200-20618400	Weak transcription	Ovary	ovary
2	chr12:20599000-20609600	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:20599600-20613800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:20599800-20604000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:20600000-20604800	Weak transcription	Fetal Heart	heart
6	chr12:20600800-20603800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:20600800-20604200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:20601000-20606800	Weak transcription	Right Ventricle	heart
9	chr12:20601800-20604000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:20602000-20605800	Enhancers	Osteobl	bone
11	chr12:20602000-20607600	Weak transcription	Fetal Kidney	kidney
12	chr12:20602000-20609000	Enhancers	Fetal Intestine Large	intestine
13	chr12:20602200-20603800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:20602400-20604200	Enhancers	NHDF-Ad	bronchial
15	chr12:20602800-20603800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:20602800-20604800	Strong transcription	Hela-S3	cervix
17	chr12:20602800-20605000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:20602800-20610000	Enhancers	Fetal Intestine Small	intestine
19	chr12:20603000-20604400	Weak transcription	Aorta	Aorta
20	chr12:20603000-20604400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr12:20603200-20605200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:20603200-20605200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:20603200-20605600	Weak transcription	Left Ventricle	heart
24	chr12:20603400-20604000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:20603400-20604200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:20603400-20604800	Enhancers	Colon Smooth Muscle	Colon
27	chr12:20603600-20603800	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:20603600-20604000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:20603600-20604000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:20603600-20604000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:20603600-20605600	Enhancers	NH-A	brain
32	chr12:20603600-20606000	Enhancers	A549	lung

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