Variant report

Variant	rs72995520
Chromosome Location	chr2:151887116-151887117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56871909	1.00[AFR][1000 genomes]
rs57971550	1.00[AFR][1000 genomes]
rs58812200	1.00[AFR][1000 genomes]
rs59207069	1.00[AFR][1000 genomes]
rs72993558	1.00[AFR][1000 genomes]
rs72993561	1.00[AFR][1000 genomes]
rs72993601	1.00[AFR][1000 genomes]
rs72995510	1.00[AFR][1000 genomes]
rs72995512	1.00[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151879200-151888400	Weak transcription	Fetal Stomach	stomach
2	chr2:151883800-151887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:151883800-151888800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:151884000-151888800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:151884000-151889400	Weak transcription	Fetal Heart	heart
6	chr2:151884800-151887200	Enhancers	NHDF-Ad	bronchial
7	chr2:151885600-151888600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:151886400-151889000	Weak transcription	Fetal Lung	lung
9	chr2:151886600-151887200	Enhancers	Osteobl	bone
10	chr2:151886800-151887200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:151886800-151888600	Weak transcription	NHLF	lung
12	chr2:151886800-151888800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:151886800-151888800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:151886800-151889200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:151887000-151887400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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