Variant report

Variant	rs4763454
Chromosome Location	chr12:10336755-10336756
allele	A/C
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	CTCF	chr12:10336740-10336890	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
TMEM52B	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17808107	0.87[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17808113	0.93[CEU][hapmap];0.86[MEX][hapmap];0.85[EUR][1000 genomes]
rs17808125	0.93[CEU][hapmap]
rs57922269	0.86[EUR][1000 genomes]
rs73056040	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73056073	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73057956	0.84[EUR][1000 genomes]
rs7975181	0.83[EUR][1000 genomes]
rs7976248	0.80[YRI][hapmap]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4763454	C12orf33	cis	cerebellum	SCAN
rs4763454	TAS2R14	cis	parietal	SCAN
rs4763454	NANOGNB	cis	cerebellum	SCAN
rs4763454	EMP1	cis	cerebellum	SCAN
rs4763454	RIMKLB	cis	parietal	SCAN
rs4763454	GNB3	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10329600-10339000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:10332800-10337000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:10333400-10337200	Enhancers	Hela-S3	cervix
4	chr12:10334000-10337000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:10334600-10336800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:10334600-10336800	Enhancers	NHLF	lung
7	chr12:10334600-10340200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:10334800-10337200	Enhancers	NHDF-Ad	bronchial
9	chr12:10334800-10339000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:10335000-10336800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:10335200-10337000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:10335600-10337000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:10335800-10336800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:10335800-10336800	Weak transcription	Fetal Lung	lung
15	chr12:10335800-10337200	Weak transcription	A549	lung
16	chr12:10336000-10337200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:10336000-10342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:10336000-10343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:10336200-10336800	Weak transcription	Osteobl	bone
20	chr12:10336400-10337200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:10336600-10337200	Enhancers	Placenta	Placenta
22	chr12:10336600-10337400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:10336600-10337800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:10336600-10338000	Enhancers	Fetal Stomach	stomach

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