Variant report

Variant	rs279386
Chromosome Location	chr5:167091045-167091046
allele	G/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	chr5:167090943-167091250	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000254187	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10035233	0.84[ASN][1000 genomes]
rs10516036	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs11134467	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11950863	0.94[CEU][hapmap];0.90[CHB][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1380166	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1459074	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1459075	0.89[AMR][1000 genomes]
rs1459076	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17068914	0.82[CEU][hapmap];0.86[AMR][1000 genomes]
rs17068925	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17068972	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2243779	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2546988	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs279385	0.89[CHB][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs279408	1.00[JPT][hapmap]
rs279409	1.00[JPT][hapmap]
rs4351166	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4431367	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4432913	0.94[CEU][hapmap];0.90[CHB][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4463193	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4463194	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4546405	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4993460	0.86[ASN][1000 genomes]
rs56116300	0.87[EUR][1000 genomes]
rs57372018	0.96[EUR][1000 genomes]
rs6555765	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6860687	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6885448	0.82[JPT][hapmap]
rs7704071	0.86[ASN][1000 genomes]
rs7704222	0.86[ASN][1000 genomes]
rs7704469	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7718412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7723247	1.00[JPT][hapmap]
rs7724248	0.86[ASN][1000 genomes]
rs7725107	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2763892	chr5:167080980-167101161	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167085000-167092800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:167088800-167093000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:167090400-167091200	Enhancers	HSMM	muscle
4	chr5:167090600-167115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:167090800-167097800	Weak transcription	A549	lung
6	chr5:167091000-167093400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:167091000-167096600	Weak transcription	Muscle Satellite Cultured Cells	--

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