Variant report

Variant	rs72938847
Chromosome Location	chr6:72307811-72307812
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11751413	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11755205	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11756168	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11758536	0.90[EUR][1000 genomes]
rs12528750	0.82[EUR][1000 genomes]
rs12529063	0.82[EUR][1000 genomes]
rs1486608	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1547046	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1889276	0.92[EUR][1000 genomes]
rs1889277	0.92[EUR][1000 genomes]
rs34273564	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67041987	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6912835	0.88[EUR][1000 genomes]
rs7754979	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7775155	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	nsv830685	chr6:72244007-72410757	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72938847	RIMS1	cis	Muscle Skeletal	GTEx
rs72938847	RIMS1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72307400-72310200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:72307600-72312000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:72307800-72309600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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