Variant report

Variant	rs12822209
Chromosome Location	chr12:45445509-45445510
allele	C/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	ZBTB7A	chr12:45444591-45445542	ECC-1	luminal epithelium:	n/a	n/a
2	CTBP2	chr12:45443795-45445560	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr12:45444733-45445541	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
DBX2	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10506260	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11609078	0.81[EUR][1000 genomes]
rs11609889	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11612170	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11612586	0.87[AMR][1000 genomes]
rs11613494	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11614600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11615455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12301265	0.81[EUR][1000 genomes]
rs12810186	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12811419	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12811488	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12816234	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12816596	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12818196	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12829582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12830481	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12831193	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1605295	0.81[EUR][1000 genomes]
rs17095316	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17598279	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28696281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34073769	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34089464	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34568257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34608296	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34685472	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35018588	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35139683	0.81[EUR][1000 genomes]
rs35256979	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35514455	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35531664	0.81[EUR][1000 genomes]
rs35540499	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35555451	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35781370	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35799097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35939831	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56739303	0.81[AMR][1000 genomes]
rs71459279	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71459290	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71459292	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7298235	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45443000-45445600	Active TSS	Right Atrium	heart
2	chr12:45443400-45445600	Active TSS	Brain Anterior Caudate	brain
3	chr12:45443400-45445600	Active TSS	Brain Cingulate Gyrus	brain
4	chr12:45443400-45445800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:45443400-45446000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:45443600-45445600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:45443600-45445800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:45443800-45445600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:45443800-45445600	Bivalent Enhancer	Liver	Liver
10	chr12:45443800-45445800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:45444000-45445600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:45444000-45445800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:45444000-45445800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:45444000-45445800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:45444000-45445800	Active TSS	Brain Angular Gyrus	brain
16	chr12:45444200-45445600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:45444200-45445600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:45444200-45445600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:45444200-45445600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:45444200-45445600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
21	chr12:45444200-45445600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:45444200-45445600	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:45444200-45445800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:45444200-45445800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:45444200-45446000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:45444400-45445600	Flanking Bivalent TSS/Enh	HMEC	breast
27	chr12:45444600-45445600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:45444600-45445600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr12:45444600-45445600	Bivalent/Poised TSS	HepG2	liver
30	chr12:45444600-45445800	Bivalent/Poised TSS	NH-A	brain
31	chr12:45444800-45445600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr12:45444800-45445600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:45444800-45445600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
34	chr12:45444800-45445600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr12:45444800-45445600	Bivalent/Poised TSS	Fetal Kidney	kidney
36	chr12:45444800-45445600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr12:45444800-45445600	Bivalent/Poised TSS	NHLF	lung
38	chr12:45444800-45445800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:45445000-45445600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr12:45445000-45445600	Active TSS	Aorta	Aorta
41	chr12:45445000-45445600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr12:45445200-45445600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:45445200-45445600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr12:45445200-45445600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr12:45445200-45445600	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr12:45445200-45445600	Bivalent Enhancer	Fetal Heart	heart
47	chr12:45445200-45445600	Bivalent Enhancer	Fetal Lung	lung
48	chr12:45445200-45445600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr12:45445200-45445600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
50	chr12:45445200-45445600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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