Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:167297876-167298076	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000221741	TF binding region
TENM2	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1035373	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12109973	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs12189098	0.86[CEU][hapmap]
rs12522225	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs12716236	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs13182072	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs1363205	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1363206	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1421979	0.88[EUR][1000 genomes]
rs1421982	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs1421983	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs17069307	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs1963355	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2112309	1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2909796	0.86[ASN][1000 genomes]
rs2909797	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2909799	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2909800	0.92[ASN][1000 genomes]
rs2909803	0.89[ASN][1000 genomes]
rs2973657	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2973658	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2973659	0.89[ASN][1000 genomes]
rs2973669	0.92[ASN][1000 genomes]
rs60172043	0.89[ASN][1000 genomes]
rs6555773	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7719650	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs7729681	0.95[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462511	chr5:167275087-167324809	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
2	nsv600254	chr5:167275087-167324809	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167251800-167299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167266600-167326200	Weak transcription	HMEC	breast
3	chr5:167281800-167301600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:167285600-167325600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:167290200-167301600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167291800-167300800	Weak transcription	NHEK	skin
7	chr5:167292000-167299800	Weak transcription	Fetal Lung	lung
8	chr5:167296600-167298400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:167296800-167303600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:167297800-167298400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:167298000-167298400	Enhancers	NH-A	brain
12	chr5:167298000-167299000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:167298000-167299200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:167298000-167311000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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