Variant report

Variant	rs74086125
Chromosome Location	chr12:47207451-47207452
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]
rs58207753	1.00[AFR][1000 genomes]
rs60302941	1.00[AFR][1000 genomes]
rs74082905	1.00[AFR][1000 genomes]
rs74082910	1.00[AFR][1000 genomes]
rs74082913	1.00[AFR][1000 genomes]
rs74082924	1.00[AFR][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:11 , 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	chr12:47203600-47209400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:47204800-47209000	Enhancers	HepG2	liver
6	chr12:47205600-47208000	Active TSS	Thymus	Thymus
7	chr12:47206200-47209200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:47206200-47209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:47207200-47207600	Flanking Active TSS	Fetal Thymus	thymus
10	chr12:47207200-47208200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:47207200-47208200	Enhancers	Pancreas	Pancrea

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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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