Variant report

Variant	rs56236411
Chromosome Location	chr5:167290510-167290511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10061595	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064131	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741952	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13354056	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862198	0.81[EUR][1000 genomes]
rs28580528	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880465	0.88[EUR][1000 genomes]
rs7443761	0.81[EUR][1000 genomes]
rs7449290	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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	chr5:167281600-167296600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:167281800-167301600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:167285600-167325600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:167288200-167291000	Enhancers	Brain Germinal Matrix	brain
7	chr5:167288200-167291200	Enhancers	Fetal Brain Male	brain
8	chr5:167288200-167291800	Strong transcription	NHEK	skin
9	chr5:167288200-167295000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:167288200-167296600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167289000-167294200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:167289600-167297800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:167289800-167291000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:167290200-167301600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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