Variant report

Variant	rs1812057
Chromosome Location	chr12:68219854-68219855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1420348	1.00[EUR][1000 genomes]
rs17104263	1.00[EUR][1000 genomes]
rs2700086	1.00[EUR][1000 genomes]
rs58620322	1.00[EUR][1000 genomes]
rs61143607	1.00[EUR][1000 genomes]
rs73316764	1.00[EUR][1000 genomes]
rs74099768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099786	1.00[EUR][1000 genomes]
rs74099789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430007	chr12:67947726-68241938	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68210400-68220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:68215000-68220200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:68215400-68220000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:68215600-68221200	Weak transcription	Psoas Muscle	Psoas
5	chr12:68216800-68221400	Weak transcription	Brain Germinal Matrix	brain
6	chr12:68217400-68220800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:68218600-68221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:68219200-68220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:68219400-68222800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:68219600-68221000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:68219600-68221000	Enhancers	HSMMtube	muscle
12	chr12:68219600-68221200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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