Variant report

Variant	rs1438910
Chromosome Location	chr12:30724760-30724761
allele	A/G
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]
rs1087341	0.88[EUR][1000 genomes]
rs1438911	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1682402	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1682403	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2438666	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2449995	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2449997	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2449998	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2449999	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs794156	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs794157	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs794159	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs794160	0.81[AFR][1000 genomes]
rs7974489	1.00[CHD][hapmap]
rs956503	0.89[AMR][1000 genomes];0.92[EUR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1438910	FLJ13224	cis	cerebellum	SCAN
rs1438910	IPO8	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30722200-30725600	Enhancers	Fetal Lung	lung
2	chr12:30723000-30725000	Enhancers	Fetal Stomach	stomach
3	chr12:30723600-30726800	Enhancers	Adipose Nuclei	Adipose
4	chr12:30723800-30724800	Enhancers	Stomach Smooth Muscle	stomach
5	chr12:30724000-30725400	Weak transcription	Liver	Liver
6	chr12:30724600-30738600	Weak transcription	Pancreas	Pancrea

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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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