Variant report

Variant	rs6991838
Chromosome Location	chr8:66470962-66470963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10106749	0.84[TSI][hapmap]
rs11786598	0.88[EUR][1000 genomes]
rs11992528	0.86[EUR][1000 genomes]
rs13271817	0.89[EUR][1000 genomes]
rs13274205	0.83[MEX][hapmap];0.87[TSI][hapmap]
rs13275168	0.83[MEX][hapmap];0.87[TSI][hapmap]
rs13280521	0.82[TSI][hapmap]
rs13281090	0.87[TSI][hapmap]
rs13282323	0.85[EUR][1000 genomes]
rs17396080	0.83[MEX][hapmap];0.84[TSI][hapmap]
rs28547533	0.86[EUR][1000 genomes]
rs28709439	0.86[EUR][1000 genomes]
rs4394432	0.88[EUR][1000 genomes]
rs6994889	0.85[EUR][1000 genomes]
rs7007987	0.82[TSI][hapmap]
rs7829434	0.87[TSI][hapmap]
rs869151	0.83[MEX][hapmap];0.85[TSI][hapmap]

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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6991838	LOC286186	cis	brain	BrainEAC
rs6991838	MTFR1	cis	multi-tissue	Pritchard
rs6991838	MTFR1	cis	cerebellum	SCAN
rs6991838	LOC286186	cis	intralobular white matter	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66468600-66472400	Weak transcription	Fetal Brain Female	brain

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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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