Variant report

Variant	rs1539382
Chromosome Location	chr1:57091717-57091718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10789035	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10888992	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10888993	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10889000	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10889004	0.80[ASN][1000 genomes]
rs11206878	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11206881	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11206882	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2404988	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2746347	0.89[ASN][1000 genomes]
rs4399186	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4912407	0.81[ASN][1000 genomes]
rs6588640	0.80[ASN][1000 genomes]
rs74073774	0.80[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2762142	chr1:57082459-57094901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57090800-57091800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:57090800-57093800	Enhancers	Hela-S3	cervix
3	chr1:57091000-57092200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:57091000-57093600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:57091000-57093800	Enhancers	NHDF-Ad	bronchial
6	chr1:57091200-57092000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:57091200-57092800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:57091200-57093600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:57091400-57092400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:57091400-57093000	Enhancers	A549	lung
11	chr1:57091400-57093800	Enhancers	HSMM	muscle
12	chr1:57091400-57093800	Enhancers	NHLF	lung
13	chr1:57091400-57093800	Enhancers	Osteobl	bone
14	chr1:57091600-57091800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:57091600-57092200	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:57091600-57092400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:57091600-57092600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:57091600-57093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:57091600-57093600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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