Variant report

Variant	rs7743293
Chromosome Location	chr6:72363620-72363621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11751413	0.89[ASN][1000 genomes]
rs11755205	0.86[ASN][1000 genomes]
rs11756168	0.86[ASN][1000 genomes]
rs11758536	0.96[ASN][1000 genomes]
rs12528750	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs12529063	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1407200	0.86[CHB][hapmap]
rs1486608	0.86[ASN][1000 genomes]
rs1547046	0.86[ASN][1000 genomes]
rs1889276	0.97[ASN][1000 genomes]
rs1889277	0.97[ASN][1000 genomes]
rs34273564	0.86[ASN][1000 genomes]
rs67041987	0.86[ASN][1000 genomes]
rs6912835	0.96[ASN][1000 genomes]
rs7754979	0.86[ASN][1000 genomes]
rs7775155	0.86[ASN][1000 genomes]
rs9293848	0.92[CEU][hapmap];0.82[TSI][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7743293	RIMS1	cis	Heart Left Ventricle	GTEx
rs7743293	LMBRD1	cis	cerebellum	SCAN
rs7743293	C6orf221	cis	cerebellum	SCAN
rs7743293	RIMS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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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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