Variant report

Variant	rs17069307
Chromosome Location	chr5:167275532-167275533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1035373	0.84[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13165876	0.86[EUR][1000 genomes]
rs1363206	0.84[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1963355	0.90[ASN][1000 genomes]
rs2112309	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2909796	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2909797	0.84[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs2909799	0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2909800	0.95[ASN][1000 genomes]
rs2909803	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2973657	0.94[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2973658	0.94[CEU][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2973659	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2973669	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4632816	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs60172043	0.86[ASN][1000 genomes]

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	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
3	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
4	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:11 , 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	chr5:167252600-167276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:167266600-167326200	Weak transcription	HMEC	breast
4	chr5:167269000-167278000	Strong transcription	NHEK	skin
5	chr5:167271200-167280000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167271600-167276000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:167271800-167276200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:167273200-167284400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:167273600-167277000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:167275000-167280400	Weak transcription	Fetal Lung	lung
11	chr5:167275200-167280400	Weak transcription	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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