Variant report

Variant	rs9647570
Chromosome Location	chr5:167370263-167370264
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12521018	1.00[LWK][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

Variant related diseases (count:1)

Disease	PMID	Source
Menarche (age at onset)	25231870	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9647570	ODZ2	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167361600-167371200	Weak transcription	NHEK	skin
2	chr5:167363800-167372600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167364400-167376400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:167364600-167372800	Weak transcription	Right Atrium	heart
5	chr5:167365200-167371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:167367000-167370600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:167367200-167377600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:167367600-167371000	Weak transcription	HMEC	breast
9	chr5:167367600-167378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:167367800-167372600	Weak transcription	Right Ventricle	heart
11	chr5:167368600-167370600	Weak transcription	Osteobl	bone
12	chr5:167369000-167372800	Weak transcription	Left Ventricle	heart
13	chr5:167369200-167378200	Enhancers	HSMM	muscle
14	chr5:167369600-167375400	Enhancers	Fetal Heart	heart
15	chr5:167369800-167370400	Enhancers	Ovary	ovary
16	chr5:167369800-167371200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:167369800-167374600	Enhancers	NH-A	brain
18	chr5:167370000-167370800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:167370000-167372400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:167370000-167372600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:167370000-167377400	Enhancers	HSMMtube	muscle
22	chr5:167370000-167378200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:167370200-167374600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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