Variant report

Variant	rs12314904
Chromosome Location	chr12:63234355-63234356
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	CEBPB	chr12:63234086-63234456	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:63234164-63234394	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:63234135-63234432	K562	blood:	n/a	n/a
4	CEBPB	chr12:63234093-63234452	IMR90	lung:	n/a	n/a
5	GATA3	chr12:63234077-63234475	T-47D	breast:	n/a	n/a
6	FOXA1	chr12:63234220-63234457	T-47D	breast:	n/a	n/a
7	CEBPB	chr12:63234104-63234409	A549	lung:	n/a	n/a
8	CEBPB	chr12:63234075-63234395	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63233387..63235321-chr20:58515683..58518411,2	MCF-7	breast:

Variant related genes	Relation type
PPM1H	TF binding region
ENSG00000196227	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11174687	0.90[EUR][1000 genomes]
rs11174690	0.93[EUR][1000 genomes]
rs11174693	0.97[EUR][1000 genomes]
rs12299234	0.90[EUR][1000 genomes]
rs12303102	0.90[EUR][1000 genomes]
rs12310765	0.90[EUR][1000 genomes]
rs12314531	0.83[EUR][1000 genomes]
rs12314598	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314963	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317932	0.90[EUR][1000 genomes]
rs12321622	0.93[EUR][1000 genomes]
rs17098378	0.87[EUR][1000 genomes]
rs34031846	0.93[EUR][1000 genomes]
rs4762981	0.90[EUR][1000 genomes]
rs4763031	0.87[EUR][1000 genomes]
rs4763032	0.87[EUR][1000 genomes]
rs4763033	0.87[EUR][1000 genomes]
rs4763036	0.90[EUR][1000 genomes]
rs4763039	0.90[EUR][1000 genomes]
rs58144383	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58419885	0.87[EUR][1000 genomes]
rs61032877	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61921197	0.83[EUR][1000 genomes]
rs61921199	0.83[EUR][1000 genomes]
rs61922299	0.83[EUR][1000 genomes]
rs61922302	0.87[EUR][1000 genomes]
rs61922305	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61922306	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7311022	0.90[EUR][1000 genomes]
rs7311342	0.90[EUR][1000 genomes]
rs7316591	0.90[EUR][1000 genomes]
rs74097105	0.90[EUR][1000 genomes]
rs7955839	0.84[EUR][1000 genomes]
rs7968796	0.87[EUR][1000 genomes]
rs7977929	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63212600-63234600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:63218400-63234800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:63222200-63235200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:63225400-63237600	Weak transcription	Liver	Liver
5	chr12:63226000-63234600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:63226200-63240600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:63227600-63237200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:63228600-63237600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:63228800-63234600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:63228800-63242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:63229200-63237200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:63229200-63242200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:63229400-63235400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:63229400-63235400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:63229400-63238000	Weak transcription	A549	lung
16	chr12:63229400-63240400	Weak transcription	Osteobl	bone
17	chr12:63230000-63234400	Weak transcription	Brain Angular Gyrus	brain
18	chr12:63233000-63236400	Weak transcription	Small Intestine	intestine
19	chr12:63233600-63234800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:63233600-63235200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:63234000-63234400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:63234000-63235800	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:63234000-63237400	Enhancers	HepG2	liver
24	chr12:63234000-63241400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:63234200-63234600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:63234200-63234600	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:63234200-63235000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:63234200-63235200	Enhancers	Brain Substantia Nigra	brain
29	chr12:63234200-63236600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:63234200-63236600	Enhancers	Brain Inferior Temporal Lobe	brain

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