Variant report

Variant	rs11120431
Chromosome Location	chr1:215035932-215035933
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12120735	0.93[EUR][1000 genomes]
rs12122103	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12125500	0.88[EUR][1000 genomes]
rs12128520	0.91[EUR][1000 genomes]
rs12129708	0.93[EUR][1000 genomes]
rs12132378	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12402856	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28473621	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28581514	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73076218	0.88[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	nsv873167	chr1:214950361-215116947	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873168	chr1:214962771-215064388	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr1:215027800-215036200	Weak transcription	NHLF	lung
2	chr1:215027800-215036400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:215034600-215036800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215034600-215036800	Enhancers	Osteobl	bone
5	chr1:215034800-215037000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:215034800-215037000	Enhancers	NHDF-Ad	bronchial
7	chr1:215035000-215036200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:215035000-215036600	Enhancers	NHEK	skin
9	chr1:215035200-215036200	Enhancers	HSMM	muscle
10	chr1:215035200-215036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:215035200-215037000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:215035600-215036600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:215035600-215036800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:215035600-215037800	Weak transcription	HMEC	breast
15	chr1:215035800-215038800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	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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