Variant report

Variant	rs829470
Chromosome Location	chr6:72437128-72437129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs66707419	0.83[EUR][1000 genomes]
rs6901498	0.86[EUR][1000 genomes]
rs911363	0.83[EUR][1000 genomes]
rs9293851	0.88[EUR][1000 genomes]
rs9442699	0.88[EUR][1000 genomes]
rs9446451	0.83[EUR][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	nsv830686	chr6:72336896-72534267	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs829470	RIMS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72421000-72443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:72432000-72437600	Weak transcription	Osteobl	bone
3	chr6:72434600-72437200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:72434800-72437200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:72435000-72437200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:72435200-72439200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:72436200-72437400	Weak transcription	Adipose Derived Mesenchymal Stem Cell 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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