Variant report

Variant	rs9596019
Chromosome Location	chr13:49414335-49414336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11841457	1.00[AMR][1000 genomes]
rs12323238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9316415	1.00[AMR][1000 genomes]
rs9596013	1.00[AMR][1000 genomes]

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49410200-49414400	Enhancers	Hela-S3	cervix
2	chr13:49413000-49414600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:49413200-49414400	Enhancers	Placenta	Placenta
4	chr13:49413600-49415200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:49413600-49417800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:49414000-49414800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:49414000-49415000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:49414000-49415000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:49414000-49415200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:49414200-49418000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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