Variant report

Variant	rs138570388
Chromosome Location	chr12:47299648-47299649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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
2	nsv973062	chr12:47298309-47308954	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47298400-47302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:47298800-47299800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47299000-47299800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:47299000-47299800	Enhancers	NHDF-Ad	bronchial
5	chr12:47299000-47302200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:47299000-47302400	Weak transcription	HSMM	muscle
7	chr12:47299200-47301800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:47299200-47301800	Weak transcription	Esophagus	oesophagus
9	chr12:47299200-47302400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:47299200-47302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:47299400-47301400	Weak transcription	NHEK	skin
12	chr12:47299400-47302400	Weak transcription	Osteobl	bone
13	chr12:47299600-47301400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:47299600-47301400	Weak transcription	HMEC	breast
15	chr12:47299600-47301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:47299600-47301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:47299600-47302000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:47299600-47302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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