Variant report

Variant	rs11134491
Chromosome Location	chr5:167614729-167614730
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	GATA3	chr5:167614562-167615105	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr5:167614473-167615033	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr5:167614566-167615030	SK-N-SH	brain:	n/a	n/a
4	EP300	chr5:167613029-167615681	SK-N-SH	brain:	n/a	chr5:167614699-167614713
5	GATA2	chr5:167613559-167615442	SH-SY5Y	brain:	n/a	n/a
6	EP300	chr5:167614581-167615000	SK-N-SH_RA	brain:	n/a	chr5:167614699-167614713
7	MXI1	chr5:167613440-167615693	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr5:167614367-167615107	SH-SY5Y	brain:	n/a	n/a
9	TCF12	chr5:167614532-167615059	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr5:167614637-167614976	SK-N-SH	brain:	n/a	n/a
11	REST	chr5:167614631-167614935	SK-N-SH	brain:	n/a	n/a
12	RFX5	chr5:167614126-167615731	SK-N-SH	brain:	n/a	n/a
13	EP300	chr5:167614599-167615021	SK-N-SH_RA	brain:	n/a	chr5:167614699-167614713

Variant related genes	Relation type
ENSG00000253925	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13161927	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1472356	0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs1472357	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1874461	0.85[EUR][1000 genomes]
rs1874462	0.85[EUR][1000 genomes]
rs4246813	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4976577	0.82[ASN][1000 genomes]
rs4976578	0.85[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.92[ASN][1000 genomes]
rs4976579	0.85[MEX][hapmap]
rs4976580	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs62383456	0.88[ASN][1000 genomes]
rs62383457	0.83[ASN][1000 genomes]

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167592400-167626000	Weak transcription	HSMM	muscle
2	chr5:167603600-167617200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:167606400-167617200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:167606600-167626800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:167608400-167616200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:167608600-167631800	Weak transcription	NH-A	brain
7	chr5:167609600-167619000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:167613200-167615400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:167613200-167615400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:167613200-167615400	Strong transcription	NHEK	skin
11	chr5:167613200-167615800	Enhancers	Fetal Heart	heart
12	chr5:167613400-167615600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:167613400-167615600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:167613600-167614800	Enhancers	Stomach Smooth Muscle	stomach
15	chr5:167613600-167615000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:167613600-167615000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:167613600-167615800	Enhancers	Brain Germinal Matrix	brain
18	chr5:167613800-167614800	Enhancers	Right Ventricle	heart
19	chr5:167613800-167615000	Enhancers	Fetal Brain Male	brain
20	chr5:167613800-167615000	Enhancers	Left Ventricle	heart
21	chr5:167614000-167615800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:167614400-167620400	Weak transcription	HSMMtube	muscle
23	chr5:167614600-167618800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:167614600-167620400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:167614600-167620600	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links