Variant report

Variant	rs58135862
Chromosome Location	chr12:47218777-47218778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12315893	0.83[EUR][1000 genomes]
rs2532606	0.85[ASN][1000 genomes]
rs4262792	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57646407	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57760966	0.92[ASN][1000 genomes]
rs73283973	0.82[AFR][1000 genomes];0.91[ASN][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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47211600-47219400	Weak transcription	Psoas Muscle	Psoas
2	chr12:47216000-47219200	Enhancers	HepG2	liver
3	chr12:47216600-47219200	Weak transcription	HSMMtube	muscle
4	chr12:47217400-47220200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:47217600-47219200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:47217800-47218800	Flanking Active TSS	Liver	Liver
7	chr12:47217800-47219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:47218200-47219200	Enhancers	HSMM	muscle
9	chr12:47218400-47219200	Active TSS	Fetal Kidney	kidney
10	chr12:47218400-47219200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr12:47218400-47219400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:47218600-47218800	Bivalent Enhancer	Thymus	Thymus
13	chr12:47218600-47219200	Weak transcription	Colonic Mucosa	Colon
14	chr12:47218600-47220200	Active TSS	Rectal Mucosa Donor 29	rectum

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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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