Variant report

Variant	rs4767784
Chromosome Location	chr12:119558954-119558955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12317992	0.87[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap]
rs7958817	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7969288	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9651910	0.86[CEU][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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4767784	MED13L	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119535200-119568800	Weak transcription	Fetal Brain Male	brain
2	chr12:119553600-119567600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:119553800-119569000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:119555800-119559000	Strong transcription	Brain Germinal Matrix	brain
5	chr12:119558000-119564600	Strong transcription	Fetal Brain Female	brain

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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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