Variant report

Variant	rs2733638
Chromosome Location	chr12:116955583-116955584
allele	C/T
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	MAX	chr12:116955341-116955743	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr12:116955544-116955664	MCF10A-Er-Src	breast:	n/a	n/a
3	EBF1	chr12:116955399-116955806	GM12878	blood:	n/a	chr12:116955682-116955693 chr12:116955639-116955650
4	NANOG	chr12:116955509-116955775	H1-hESC	embryonic stem cell:	n/a	chr12:116955556-116955570
5	RELA	chr12:116955277-116955832	GM12878	blood:	n/a	chr12:116955765-116955774 chr12:116955765-116955774
6	RAD21	chr12:116955421-116955841	H1-hESC	embryonic stem cell:	n/a	chr12:116955685-116955695
7	POLR2A	chr12:116953064-116959131	K562	blood:	n/a	n/a
8	FOS	chr12:116955464-116955663	MCF10A-Er-Src	breast:	n/a	n/a
9	JUND	chr12:116955371-116955828	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr12:116955560-116955820	H1-hESC	embryonic stem cell:	n/a	n/a
11	HDAC2	chr12:116955502-116955841	H1-hESC	embryonic stem cell:	n/a	chr12:116955511-116955525
12	RELA	chr12:116955302-116955931	GM12891	blood:	n/a	chr12:116955765-116955774 chr12:116955765-116955774
13	POLR2A	chr12:116955534-116955775	H1-hESC	embryonic stem cell:	n/a	n/a
14	MTA3	chr12:116955220-116955648	GM12878	blood:	n/a	n/a
15	TCF12	chr12:116955398-116955938	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT3	chr12:116955400-116955592	MCF10A-Er-Src	breast:	n/a	n/a
17	MAFK	chr12:116955298-116955700	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:116955239-116955810	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr12:116955576-116955807	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr12:116955319-116955843	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr12:116955352-116955727	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr12:116955238-116955668	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr12:116955267-116955749	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr12:116955455-116955736	MCF10A-Er-Src	breast:	n/a	n/a
25	ZNF384	chr12:116955380-116955599	GM12878	blood:	n/a	n/a
26	RUNX3	chr12:116955338-116955963	GM12878	blood:	n/a	n/a
27	SP1	chr12:116955280-116955788	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr12:116955558-116955780	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000258018	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1241229	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1241233	0.82[EUR][1000 genomes]
rs1922428	0.85[EUR][1000 genomes]
rs2249838	0.90[EUR][1000 genomes]
rs2707201	0.85[EUR][1000 genomes]
rs2733639	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[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	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116946600-116970400	Weak transcription	Esophagus	oesophagus
2	chr12:116946800-116959200	Weak transcription	Right Atrium	heart
3	chr12:116947000-116956400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:116947000-116956400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:116952600-116958600	Weak transcription	Thymus	Thymus
6	chr12:116954000-116958600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:116954000-116959000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:116954400-116955800	Enhancers	Adipose Nuclei	Adipose
9	chr12:116954400-116968400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:116954600-116957600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:116954800-116955600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:116954800-116955600	Enhancers	NHEK	skin
13	chr12:116954800-116956200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:116954800-116956200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:116954800-116956400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:116955000-116955600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:116955000-116956800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr12:116955000-116957200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:116955200-116956600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:116955200-116956600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:116955400-116955600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:116955400-116955600	Flanking Active TSS	GM12878-XiMat	blood
23	chr12:116955400-116955800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:116955400-116955800	Active TSS	HMEC	breast
25	chr12:116955400-116956400	Weak transcription	Fetal Thymus	thymus
26	chr12:116955400-116956800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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