Variant report

Variant	rs1630788
Chromosome Location	chr12:30725323-30725324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1087340	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1087342	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1087345	0.84[AMR][1000 genomes]
rs12426381	0.82[AMR][1000 genomes]
rs1371050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1659284	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1659286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2450000	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3932069	0.85[AMR][1000 genomes]
rs794160	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs794161	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs794162	0.95[AMR][1000 genomes];0.96[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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30722200-30725600	Enhancers	Fetal Lung	lung
2	chr12:30723600-30726800	Enhancers	Adipose Nuclei	Adipose
3	chr12:30724000-30725400	Weak transcription	Liver	Liver
4	chr12:30724600-30738600	Weak transcription	Pancreas	Pancrea
5	chr12:30724800-30726600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30725000-30725400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:30725200-30725400	Enhancers	Small Intestine	intestine

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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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