Variant report

Variant	rs7708105
Chromosome Location	chr5:167343309-167343310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10074148	0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11951480	0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12109229	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12189098	0.82[JPT][hapmap]
rs13182072	0.82[JPT][hapmap]
rs1363204	0.82[JPT][hapmap]
rs1421982	0.82[JPT][hapmap]
rs1592800	0.82[JPT][hapmap]
rs32401	0.91[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32403	0.83[MEX][hapmap]
rs7710122	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7727661	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7732654	0.83[MEX][hapmap];0.81[TSI][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7708105	RARS	cis	cerebellum	SCAN
rs7708105	ODZ2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167333600-167345800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:167337600-167343400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:167339600-167343600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:167339800-167343800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:167342200-167344200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167342400-167344000	Enhancers	Fetal Brain Male	brain
7	chr5:167342400-167347200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:167342600-167344200	Enhancers	NH-A	brain
9	chr5:167343000-167343400	Genic enhancers	NHEK	skin
10	chr5:167343000-167343800	Enhancers	HSMMtube	muscle
11	chr5:167343000-167344200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:167343000-167344200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:167343000-167344200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:167343000-167344400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:167343000-167344400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:167343000-167344400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:167343000-167344400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:167343000-167344400	Enhancers	HMEC	breast
19	chr5:167343000-167346400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:167343000-167347800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:167343200-167344000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:167343200-167344000	Enhancers	HSMM	muscle
23	chr5:167343200-167344200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:167343200-167344200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:167343200-167344200	Enhancers	Fetal Lung	lung
26	chr5:167343200-167344400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:167343200-167345600	Enhancers	HUES64 Cell Line	embryonic stem cell

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