Variant report

Variant	rs7864580
Chromosome Location	chr9:85812142-85812143
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11139953	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11795061	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12237222	0.88[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1323765	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1323766	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13292972	0.81[AMR][1000 genomes]
rs13293114	0.81[AMR][1000 genomes]
rs1359165	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1408101	0.86[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1408102	0.88[CHB][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1408103	0.88[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1830772	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181711	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7024372	0.81[CEU][hapmap]
rs7041473	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7041613	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893511	chr9:85495968-85833127	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831642	chr9:85679425-85817338	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7864580	RMI1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85811200-85812600	Enhancers	Fetal Brain Female	brain
2	chr9:85811800-85813400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:85811800-85813600	Enhancers	Fetal Heart	heart
4	chr9:85812000-85812200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:85812000-85812200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:85812000-85812200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:85812000-85812400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:85812000-85812800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:85812000-85812800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:85812000-85813200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:85812000-85813200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:85812000-85813400	Enhancers	Brain Germinal Matrix	brain

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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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