Variant report

Variant	rs72671992
Chromosome Location	chr1:45170161-45170162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11582453	1.00[AFR][1000 genomes]
rs11585861	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 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	chr1:45143600-45171800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:45146000-45172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:45159200-45172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:45161200-45173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:45162600-45172400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:45163200-45173800	Weak transcription	Primary T cells from cord blood	blood
7	chr1:45164800-45173400	Weak transcription	GM12878-XiMat	blood
8	chr1:45167000-45171600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:45167000-45171800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:45167000-45173400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:45167200-45173200	Weak transcription	Placenta	Placenta
12	chr1:45169000-45172000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:45169000-45172400	Weak transcription	Esophagus	oesophagus
14	chr1:45169200-45172000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:45169200-45173200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:45169200-45180600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:45169600-45170200	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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