Variant report

Variant	rs72899928
Chromosome Location	chr2:67741984-67741985
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11890974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11904762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1402441	0.96[ASN][1000 genomes]
rs17033765	1.00[EUR][1000 genomes]
rs2683675	0.98[ASN][1000 genomes]
rs2683677	0.98[ASN][1000 genomes]
rs2683683	0.98[ASN][1000 genomes]
rs2683684	0.98[ASN][1000 genomes]
rs28562857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59725517	1.00[EUR][1000 genomes]
rs59920988	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897787	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72899913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72899935	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899978	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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67728200-67742800	Weak transcription	Fetal Lung	lung
2	chr2:67738400-67742600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:67741400-67742000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:67741400-67742200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:67741400-67742400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:67741400-67743800	Enhancers	Placenta	Placenta
7	chr2:67741400-67745200	Enhancers	NHDF-Ad	bronchial
8	chr2:67741400-67745200	Enhancers	NHLF	lung
9	chr2:67741600-67742200	Enhancers	Osteobl	bone
10	chr2:67741600-67742400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:67741600-67742400	Enhancers	Hela-S3	cervix
12	chr2:67741600-67742600	Weak transcription	Esophagus	oesophagus
13	chr2:67741600-67743200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:67741800-67742000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:67741800-67742200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:67741800-67743200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:67741800-67743800	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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