Variant report

Variant	rs56747454
Chromosome Location	chr12:105228506-105228507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17036430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56172532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56302664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56745471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56784841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845641	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59027081	1.00[AMR][1000 genomes]
rs59568349	1.00[AMR][1000 genomes]
rs59751889	1.00[AMR][1000 genomes]
rs61274096	1.00[AMR][1000 genomes]
rs7300539	1.00[AMR][1000 genomes]
rs7305882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9669688	0.95[AFR][1000 genomes];1.00[AMR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 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	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:105219800-105240800	Weak transcription	Gastric	stomach
3	chr12:105220400-105229000	Strong transcription	Liver	Liver
4	chr12:105220400-105239600	Weak transcription	Aorta	Aorta
5	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:105222000-105258400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:105222000-105258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:105222200-105258800	Weak transcription	Pancreas	Pancrea
9	chr12:105223400-105232400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:105223600-105237000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:105227400-105237600	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