Variant report

Variant	rs72997788
Chromosome Location	chr2:151854196-151854197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59325302	1.00[AFR][1000 genomes]
rs72995938	1.00[AFR][1000 genomes]
rs72995951	1.00[AFR][1000 genomes]
rs72995967	1.00[AFR][1000 genomes]
rs72997762	1.00[AFR][1000 genomes]
rs72997772	1.00[AFR][1000 genomes]
rs72997775	1.00[AFR][1000 genomes]
rs72997790	0.81[AFR][1000 genomes]
rs72997793	1.00[AFR][1000 genomes]
rs72997802	1.00[AFR][1000 genomes]
rs73006842	1.00[AFR][1000 genomes]
rs73006846	1.00[AFR][1000 genomes]
rs73006857	1.00[AFR][1000 genomes]
rs73006872	0.81[AFR][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	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:151843800-151871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151851000-151854400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:151852600-151854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:151853000-151854600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:151853200-151854200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:151853400-151856600	Enhancers	NHDF-Ad	bronchial
7	chr2:151853600-151854600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:151853600-151854800	Enhancers	Fetal Lung	lung
9	chr2:151853600-151854800	Enhancers	Fetal Muscle Leg	muscle
10	chr2:151853800-151854200	Weak transcription	Fetal Stomach	stomach

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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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