Variant report

Variant	rs74082905
Chromosome Location	chr12:47220759-47220760
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]
rs74082910	1.00[AFR][1000 genomes]
rs74082913	1.00[AFR][1000 genomes]
rs74082924	1.00[AFR][1000 genomes]
rs74086125	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47219800-47221800	Weak transcription	Esophagus	oesophagus
2	chr12:47219800-47224000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:47219800-47224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:47219800-47224200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:47219800-47224400	Weak transcription	Right Ventricle	heart
6	chr12:47220000-47224600	Weak transcription	Pancreas	Pancrea
7	chr12:47220200-47221200	Enhancers	Liver	Liver
8	chr12:47220200-47221800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:47220200-47224000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:47220200-47224200	Weak transcription	NHEK	skin
11	chr12:47220200-47224400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:47220200-47224400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:47220600-47221000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:47220600-47224200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:47220600-47224800	Weak transcription	HSMM	muscle

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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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