Variant report

Variant	rs56105344
Chromosome Location	chr12:44318498-44318499
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11835197	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11837742	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55656444	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55900603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58915539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61932976	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61932977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61932981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61933007	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61933008	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73085708	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:44307400-44324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44311400-44324600	Weak transcription	Left Ventricle	heart
3	chr12:44315200-44324200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44316000-44321200	Weak transcription	HSMMtube	muscle
5	chr12:44317400-44321200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:44317600-44321400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44317600-44325400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:44317800-44321600	Weak transcription	Fetal Stomach	stomach
9	chr12:44318400-44318600	Weak transcription	Esophagus	oesophagus
10	chr12:44318400-44319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	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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