Variant report

Variant	rs57988025
Chromosome Location	chr12:105284590-105284591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11112218	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12296528	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12316185	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3923753	0.90[ASN][1000 genomes]
rs4375513	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55652121	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299019	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57988025	ENSG00000136052	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105273800-105288200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:105275400-105297000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:105278400-105293200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:105278600-105313800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:105282200-105284800	Weak transcription	HSMMtube	muscle
6	chr12:105283800-105284800	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:105284000-105284800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:105284200-105284600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:105284200-105284800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:105284200-105285000	Enhancers	GM12878-XiMat	blood
11	chr12:105284400-105284600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:105284400-105284800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:105284400-105284800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:105284400-105284800	Enhancers	Liver	Liver
15	chr12:105284400-105284800	Enhancers	NHDF-Ad	bronchial
16	chr12:105284400-105285000	Enhancers	Aorta	Aorta
17	chr12:105284400-105285000	Genic enhancers	Gastric	stomach

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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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