Variant report

Variant	rs398116416
Chromosome Location	chr12:48412447-48412448
allele	-/TC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2760677	chr12:48412410-48416967	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2510949	chr12:48412446-48412447	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2256372	chr12:48412446-48412448	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48399400-48415000	Weak transcription	Right Atrium	heart
2	chr12:48410600-48414800	Weak transcription	Hela-S3	cervix
3	chr12:48411400-48412600	Enhancers	HepG2	liver
4	chr12:48411600-48415000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:48411600-48415200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:48412000-48415800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:48412200-48412800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:48412400-48412600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:48412400-48415000	Weak transcription	Fetal Intestine Large	intestine
10	chr12:48412400-48415000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:48412400-48415000	Weak transcription	Rectal Mucosa Donor 31	rectum

Quick Search:

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

what's new

Quick links