Variant report

Variant	rs12424453
Chromosome Location	chr12:47205812-47205813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10161209	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10437941	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183619	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12300935	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17097332	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4447249	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482114	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283958	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283960	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47187800-47209400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:47203200-47213200	Enhancers	Liver	Liver
3	chr12:47203400-47210800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:47203600-47206000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:47203600-47209400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:47204800-47209000	Enhancers	HepG2	liver
7	chr12:47205400-47207200	Weak transcription	Pancreas	Pancrea
8	chr12:47205600-47206000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:47205600-47206000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:47205600-47207200	Active TSS	Fetal Thymus	thymus
11	chr12:47205600-47208000	Active TSS	Thymus	Thymus
12	chr12:47205800-47207200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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