Variant report

Variant	rs17069547
Chromosome Location	chr5:167426585-167426586
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10516039	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11948431	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11950941	0.99[ASN][1000 genomes]
rs12153623	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17069520	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17069582	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17069585	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17069617	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs17069662	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2617958	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2617979	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs56117649	0.96[ASN][1000 genomes]
rs56379512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57271872	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58243181	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58485045	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66943039	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67727213	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863895	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6882264	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72824974	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73375658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754925	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs889066	0.93[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9764066	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][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	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167413800-167432000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:167419200-167428000	Weak transcription	Brain Anterior Caudate	brain
3	chr5:167421000-167428000	Weak transcription	Right Ventricle	heart
4	chr5:167421600-167426600	Weak transcription	Left Ventricle	heart
5	chr5:167423400-167440600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167423400-167455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:167423600-167427800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:167423600-167429200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:167423800-167427000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:167423800-167432000	Weak transcription	HMEC	breast
11	chr5:167425200-167426600	Enhancers	Fetal Heart	heart
12	chr5:167425200-167428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:167425200-167428000	Strong transcription	NHEK	skin
14	chr5:167425600-167427000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:167425600-167427800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:167425800-167427000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:167426200-167426800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:167426200-167426800	Weak transcription	Right Atrium	heart
19	chr5:167426200-167427800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:167426400-167428000	Weak transcription	Fetal Lung	lung
21	chr5:167426400-167428400	Strong transcription	HSMM	muscle

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