Variant report

Variant	rs794161
Chromosome Location	chr12:30734402-30734403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1087340	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1087342	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1087345	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12426381	1.00[ASN][1000 genomes]
rs1371050	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1438909	0.82[AFR][1000 genomes]
rs1630788	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1659284	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1659286	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2450000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794160	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs794162	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974489	1.00[CHD][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs794161	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30724600-30738600	Weak transcription	Pancreas	Pancrea
2	chr12:30726600-30740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:30727800-30752800	Weak transcription	Left Ventricle	heart
4	chr12:30732400-30734600	Enhancers	Fetal Stomach	stomach
5	chr12:30732400-30734800	Enhancers	Fetal Lung	lung
6	chr12:30732400-30752000	Weak transcription	HSMMtube	muscle
7	chr12:30733200-30736200	Weak transcription	Ovary	ovary
8	chr12:30733400-30752600	Weak transcription	Right Ventricle	heart
9	chr12:30734000-30741400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:30734200-30741000	Weak transcription	Lung	lung
11	chr12:30734200-30749800	Weak transcription	Aorta	Aorta

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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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