Variant report

Variant	rs2009391
Chromosome Location	chr12:120766043-120766044
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
PLA2G1B	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000111780	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1007469	0.92[EUR][1000 genomes]
rs1179434	0.95[EUR][1000 genomes]
rs1179450	0.91[EUR][1000 genomes]
rs1183783	0.93[EUR][1000 genomes]
rs2522136	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2701629	0.83[ASN][1000 genomes]
rs2701632	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
5	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120764000-120766400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:120764000-120773800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:120764000-120783800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:120764000-120799200	Weak transcription	Right Atrium	heart
5	chr12:120765200-120766200	Enhancers	Liver	Liver
6	chr12:120765200-120766400	Enhancers	Ovary	ovary
7	chr12:120765200-120766600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:120765600-120766400	Flanking Active TSS	HepG2	liver
9	chr12:120765800-120768200	Weak transcription	Gastric	stomach
10	chr12:120765800-120769200	Weak transcription	Fetal Intestine Large	intestine
11	chr12:120765800-120769400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:120766000-120766200	Enhancers	Fetal Brain Male	brain
13	chr12:120766000-120766200	Enhancers	Pancreas	Pancrea

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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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