Variant report

Variant	rs56147425
Chromosome Location	chr12:44762405-44762406
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1104356	1.00[AMR][1000 genomes]
rs1612439	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1623888	1.00[AMR][1000 genomes]
rs1627100	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094468	1.00[AMR][1000 genomes]
rs1798019	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1798029	1.00[AMR][1000 genomes]
rs1798030	1.00[AMR][1000 genomes]
rs1798034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55885620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56041151	1.00[AMR][1000 genomes]
rs56341304	1.00[AMR][1000 genomes]
rs56888768	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57189846	1.00[AMR][1000 genomes]
rs57265732	0.81[AFR][1000 genomes]
rs57792241	1.00[AMR][1000 genomes]
rs58093009	1.00[AMR][1000 genomes]
rs58264920	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58491255	1.00[AMR][1000 genomes]
rs74078474	1.00[AMR][1000 genomes]
rs74085005	1.00[AMR][1000 genomes]
rs74085118	1.00[AMR][1000 genomes]
rs74087507	1.00[AMR][1000 genomes]
rs74087508	1.00[AMR][1000 genomes]
rs74087522	1.00[AMR][1000 genomes]
rs840763	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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44754000-44775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44760200-44770400	Weak transcription	Left Ventricle	heart
5	chr12:44760800-44763600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:44760800-44769600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:44762000-44777400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine

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