Variant report

Variant	rs17808125
Chromosome Location	chr12:10337377-10337378
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	CEBPB	chr12:10337001-10337501	A549	lung:	n/a	n/a
2	CEBPB	chr12:10337017-10337634	IMR90	lung:	n/a	n/a
3	CEBPB	chr12:10337058-10337453	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:10337111-10337438	A549	lung:	n/a	n/a
5	POLR2A	chr12:10336894-10337399	HL-60	blood:	n/a	n/a
6	CEBPB	chr12:10337182-10337381	HepG2	liver:	n/a	n/a
7	E2F4	chr12:10337213-10337382	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr12:10337127-10337410	Hela-S3	cervix:	n/a	chr12:10337337-10337347 chr12:10337378-10337392

Variant related genes	Relation type
TMEM52B	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17808107	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17808113	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs4763454	0.93[CEU][hapmap]
rs57922269	0.91[EUR][1000 genomes]
rs73056040	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73056073	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73057956	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7975181	0.88[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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17808125	C12orf33	cis	cerebellum	SCAN
rs17808125	TAS2R14	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10329600-10339000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:10334600-10340200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:10334800-10339000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:10336000-10342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:10336000-10343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:10336600-10337400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:10336600-10337800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:10336600-10338000	Enhancers	Fetal Stomach	stomach
9	chr12:10336800-10337400	Enhancers	Osteobl	bone
10	chr12:10336800-10337600	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:10336800-10337600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:10336800-10337600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:10337000-10337400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:10337000-10337400	Enhancers	Colon Smooth Muscle	Colon
15	chr12:10337000-10337800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:10337200-10337400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:10337200-10337400	Enhancers	A549	lung
18	chr12:10337200-10338200	Enhancers	NHLF	lung
19	chr12:10337200-10338600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:10337200-10338600	Weak transcription	GM12878-XiMat	blood
21	chr12:10337200-10341800	Weak transcription	Placenta	Placenta
22	chr12:10337200-10343200	Weak transcription	Fetal Lung	lung
23	chr12:10337200-10350400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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