Variant report

Variant	rs12522181
Chromosome Location	chr5:167426029-167426030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10039736	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11134483	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11134485	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11955430	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12523097	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1345735	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17069646	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1821254	0.84[ASN][1000 genomes]
rs1862419	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2546944	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2546957	0.81[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2546960	0.81[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap]
rs2569047	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2617956	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2617963	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2617981	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs55859018	0.85[ASN][1000 genomes]
rs6890434	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs730256	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs889067	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs985650	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs992047	0.86[CEU][hapmap];0.81[EUR][1000 genomes];0.90[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:22 , 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	chr5:167417200-167426400	Weak transcription	HSMM	muscle
3	chr5:167419200-167428000	Weak transcription	Brain Anterior Caudate	brain
4	chr5:167421000-167428000	Weak transcription	Right Ventricle	heart
5	chr5:167421600-167426600	Weak transcription	Left Ventricle	heart
6	chr5:167423400-167440600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:167423400-167455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:167423600-167427800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:167423600-167429200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:167423800-167427000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167423800-167432000	Weak transcription	HMEC	breast
12	chr5:167425200-167426200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:167425200-167426200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:167425200-167426200	Enhancers	NH-A	brain
15	chr5:167425200-167426600	Enhancers	Fetal Heart	heart
16	chr5:167425200-167428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:167425200-167428000	Strong transcription	NHEK	skin
18	chr5:167425600-167427000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:167425600-167427800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:167425800-167427000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:167426000-167426200	Enhancers	Right Atrium	heart
22	chr5:167426000-167426400	Enhancers	Fetal Lung	lung

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