Variant report

Variant	rs11174693
Chromosome Location	chr12:63235881-63235882
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	GATA3	chr12:63235683-63235964	T-47D	breast:	n/a	n/a
2	SPI1	chr12:63235615-63235998	HL-60	blood:	n/a	chr12:63235791-63235804
3	SPI1	chr12:63235581-63236068	HL-60	blood:	n/a	chr12:63236030-63236043 chr12:63235791-63235804
4	SPI1	chr12:63235694-63235894	K562	blood:	n/a	chr12:63235791-63235804

Variant related genes	Relation type
PPM1H	TF binding region

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11174687	0.87[EUR][1000 genomes]
rs11174690	0.90[EUR][1000 genomes]
rs12299234	0.87[EUR][1000 genomes]
rs12303102	0.87[EUR][1000 genomes]
rs12310765	0.87[EUR][1000 genomes]
rs12314598	0.97[EUR][1000 genomes]
rs12314904	0.97[EUR][1000 genomes]
rs12314963	0.97[EUR][1000 genomes]
rs12317932	0.87[EUR][1000 genomes]
rs12321622	0.90[EUR][1000 genomes]
rs17098378	0.84[EUR][1000 genomes]
rs34031846	0.90[EUR][1000 genomes]
rs4762981	0.87[EUR][1000 genomes]
rs4763031	0.84[EUR][1000 genomes]
rs4763032	0.84[EUR][1000 genomes]
rs4763033	0.84[EUR][1000 genomes]
rs4763036	0.87[EUR][1000 genomes]
rs4763039	0.87[EUR][1000 genomes]
rs58144383	0.97[EUR][1000 genomes]
rs58419885	0.84[EUR][1000 genomes]
rs61032877	0.97[EUR][1000 genomes]
rs61921197	0.80[EUR][1000 genomes]
rs61921199	0.80[EUR][1000 genomes]
rs61922299	0.80[EUR][1000 genomes]
rs61922302	0.84[EUR][1000 genomes]
rs61922305	0.87[EUR][1000 genomes]
rs61922306	0.93[EUR][1000 genomes]
rs7311022	0.87[EUR][1000 genomes]
rs7311342	0.87[EUR][1000 genomes]
rs7316591	0.87[EUR][1000 genomes]
rs74097105	0.87[EUR][1000 genomes]
rs7955839	0.81[EUR][1000 genomes]
rs7968796	0.84[EUR][1000 genomes]
rs7977929	0.80[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63225400-63237600	Weak transcription	Liver	Liver
2	chr12:63226200-63240600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:63227600-63237200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:63228600-63237600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:63228800-63242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:63229200-63237200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:63229200-63242200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:63229400-63238000	Weak transcription	A549	lung
9	chr12:63229400-63240400	Weak transcription	Osteobl	bone
10	chr12:63233000-63236400	Weak transcription	Small Intestine	intestine
11	chr12:63234000-63237400	Enhancers	HepG2	liver
12	chr12:63234000-63241400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:63234200-63236600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:63234200-63236600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:63234400-63236400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:63234600-63237000	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:63234600-63237200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:63234600-63238200	Enhancers	Brain Hippocampus Middle	brain
19	chr12:63235000-63237800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:63235200-63237600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:63235200-63237800	Weak transcription	Brain Substantia Nigra	brain
22	chr12:63235200-63237800	Enhancers	GM12878-XiMat	blood
23	chr12:63235400-63236000	Enhancers	Fetal Lung	lung
24	chr12:63235400-63236400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:63235400-63236400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:63235400-63236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:63235400-63236600	Enhancers	Brain Anterior Caudate	brain
28	chr12:63235400-63237000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:63235600-63236200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:63235800-63236600	Enhancers	Adipose Nuclei	Adipose
31	chr12:63235800-63236600	Enhancers	Brain Angular Gyrus	brain
32	chr12:63235800-63237600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:63235800-63238400	Enhancers	Stomach Mucosa	stomach

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