Variant report

Variant	rs272244
Chromosome Location	chr6:72386156-72386157
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11751413	0.83[EUR][1000 genomes]
rs11755205	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11756168	0.82[EUR][1000 genomes]
rs11758536	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1486608	0.82[EUR][1000 genomes]
rs1547046	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1889276	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1889277	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67041987	0.82[EUR][1000 genomes]
rs6912835	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6918162	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7754979	0.82[EUR][1000 genomes]
rs7775155	0.81[EUR][1000 genomes]
rs9446440	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9446441	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[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	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
2	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs272244	RIMS1	cis	Muscle Skeletal	GTEx
rs272244	RIMS1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72385000-72386200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:72385000-72388000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:72386000-72386200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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