Variant report

Variant	rs12317326
Chromosome Location	chr12:20604450-20604451
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	POLR2A	chr12:20604420-20605145	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
UBE2L2	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10770662	0.81[ASN][1000 genomes]
rs10770664	0.83[ASN][1000 genomes]
rs10841527	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10841537	0.95[ASN][1000 genomes]
rs10841538	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11045249	0.90[ASN][1000 genomes]
rs11045250	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11045251	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11045255	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11045262	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11045263	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12298038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311557	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12424700	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12427036	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4762756	0.89[ASN][1000 genomes]
rs4762758	0.86[ASN][1000 genomes]
rs56040734	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56050603	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56150763	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56392934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61584046	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73069202	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308231	0.83[ASN][1000 genomes]
rs7487340	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952834	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962446	0.94[ASN][1000 genomes]
rs7962871	0.94[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	chr12:20600000-20604800	Weak transcription	Fetal Heart	heart
5	chr12:20601000-20606800	Weak transcription	Right Ventricle	heart
6	chr12:20602000-20605800	Enhancers	Osteobl	bone
7	chr12:20602000-20607600	Weak transcription	Fetal Kidney	kidney
8	chr12:20602000-20609000	Enhancers	Fetal Intestine Large	intestine
9	chr12:20602800-20604800	Strong transcription	Hela-S3	cervix
10	chr12:20602800-20605000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:20602800-20610000	Enhancers	Fetal Intestine Small	intestine
12	chr12:20603200-20605200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:20603200-20605200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:20603200-20605600	Weak transcription	Left Ventricle	heart
15	chr12:20603400-20604800	Enhancers	Colon Smooth Muscle	Colon
16	chr12:20603600-20605600	Enhancers	NH-A	brain
17	chr12:20603600-20606000	Enhancers	A549	lung
18	chr12:20603800-20605400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:20603800-20608000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:20604000-20604800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:20604000-20605400	Weak transcription	Small Intestine	intestine
22	chr12:20604000-20605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:20604000-20605800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:20604000-20608000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:20604200-20604600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:20604200-20604600	Weak transcription	NHDF-Ad	bronchial
27	chr12:20604200-20605000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:20604400-20605000	Enhancers	Aorta	Aorta
29	chr12:20604400-20621600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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