Variant report

Variant	rs4072818
Chromosome Location	chr12:22192977-22192978
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10770889	1.00[EUR][1000 genomes]
rs11046312	1.00[EUR][1000 genomes]
rs2098439	1.00[EUR][1000 genomes]
rs2909074	1.00[EUR][1000 genomes]
rs2909081	1.00[EUR][1000 genomes]
rs2955502	1.00[EUR][1000 genomes]
rs4762875	1.00[EUR][1000 genomes]
rs56796024	1.00[EUR][1000 genomes]
rs6487283	1.00[EUR][1000 genomes]
rs73252077	1.00[EUR][1000 genomes]
rs73252089	1.00[EUR][1000 genomes]
rs73268247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7486136	1.00[EUR][1000 genomes]
rs7968117	1.00[EUR][1000 genomes]
rs7974190	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4072818	RAGE	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22188200-22199200	Weak transcription	Aorta	Aorta
2	chr12:22188400-22198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:22189400-22195000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:22189800-22195000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:22189800-22195000	Weak transcription	HepG2	liver
6	chr12:22191200-22195000	Weak transcription	K562	blood
7	chr12:22191600-22193000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:22192800-22193000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:22192800-22199200	Weak transcription	Placenta	Placenta

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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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