Variant report

Variant	rs11045255
Chromosome Location	chr12:20605565-20605566
allele	G/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	CEBPB	chr12:20605485-20605790	HepG2	liver:	n/a	chr12:20605642-20605655 chr12:20605644-20605653 chr12:20605642-20605653 chr12:20605643-20605654
2	CEBPB	chr12:20605509-20605803	Hela-S3	cervix:	n/a	chr12:20605642-20605655 chr12:20605644-20605653 chr12:20605642-20605653 chr12:20605643-20605654
3	CEBPB	chr12:20605530-20605785	A549	lung:	n/a	chr12:20605642-20605655 chr12:20605644-20605653 chr12:20605642-20605653 chr12:20605643-20605654
4	CEBPB	chr12:20605428-20605919	A549	lung:	n/a	chr12:20605642-20605655 chr12:20605644-20605653 chr12:20605642-20605653 chr12:20605643-20605654

Variant related genes	Relation type
UBE2L2	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10770662	0.81[ASN][1000 genomes]
rs10770663	0.82[ASN][1000 genomes]
rs10770664	0.86[ASN][1000 genomes]
rs10841527	0.86[ASN][1000 genomes]
rs10841537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841538	0.92[ASN][1000 genomes]
rs10841539	0.82[ASN][1000 genomes]
rs10841540	0.82[ASN][1000 genomes]
rs11045249	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11045250	0.86[ASN][1000 genomes]
rs11045251	0.89[ASN][1000 genomes]
rs11045262	0.99[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11045263	0.98[ASN][1000 genomes]
rs12298038	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12311557	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12317326	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12427036	0.80[ASN][1000 genomes]
rs4762756	0.86[ASN][1000 genomes]
rs4762758	0.91[ASN][1000 genomes]
rs56040734	0.81[ASN][1000 genomes]
rs56050603	0.83[ASN][1000 genomes]
rs56150763	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56392934	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61584046	0.92[ASN][1000 genomes]
rs73069202	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7308231	0.86[ASN][1000 genomes]
rs7487173	0.80[ASN][1000 genomes]
rs7952834	0.97[ASN][1000 genomes]
rs7962446	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7962871	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[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:29 , 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	chr12:20601000-20606800	Weak transcription	Right Ventricle	heart
5	chr12:20602000-20605800	Enhancers	Osteobl	bone
6	chr12:20602000-20607600	Weak transcription	Fetal Kidney	kidney
7	chr12:20602000-20609000	Enhancers	Fetal Intestine Large	intestine
8	chr12:20602800-20610000	Enhancers	Fetal Intestine Small	intestine
9	chr12:20603200-20605600	Weak transcription	Left Ventricle	heart
10	chr12:20603600-20605600	Enhancers	NH-A	brain
11	chr12:20603600-20606000	Enhancers	A549	lung
12	chr12:20603800-20608000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:20604000-20605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:20604000-20605800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:20604000-20608000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:20604400-20621600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:20604600-20605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:20604800-20605600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:20604800-20607400	Genic enhancers	Hela-S3	cervix
20	chr12:20605000-20606000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:20605000-20613000	Weak transcription	Aorta	Aorta
22	chr12:20605200-20605600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr12:20605200-20606000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:20605200-20606600	Weak transcription	NHDF-Ad	bronchial
25	chr12:20605200-20606800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:20605200-20608200	Weak transcription	Fetal Heart	heart
27	chr12:20605400-20605800	Enhancers	Small Intestine	intestine
28	chr12:20605400-20606200	Enhancers	Duodenum Mucosa	Duodenum
29	chr12:20605400-20608200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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