Variant report

Variant	rs11799662
Chromosome Location	chr1:180589656-180589657
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10914054	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11799355	0.98[AFR][1000 genomes]
rs11807477	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12403445	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12759582	0.87[AFR][1000 genomes]
rs34853798	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36022153	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67135271	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS 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	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:180581800-180600600	Weak transcription	Fetal Heart	heart
2	chr1:180586000-180590000	Weak transcription	Osteobl	bone
3	chr1:180586800-180594400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:180587400-180592800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:180587600-180590200	Weak transcription	Fetal Lung	lung
6	chr1:180587600-180590600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:180587600-180593200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:180589400-180591400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:180589600-180590200	Enhancers	K562	blood
10	chr1:180589600-180590400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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