Variant report

Variant	rs706480
Chromosome Location	chr1:57386396-57386397
allele	C/T
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:7)

rs_ID	r²[population]
rs598772	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs605648	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623077	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635833	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652553	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs669358	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs676480	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57382200-57390200	Weak transcription	Right Ventricle	heart
2	chr1:57383200-57390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:57383600-57386400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:57384200-57387400	Enhancers	Liver	Liver
5	chr1:57384600-57386600	Enhancers	Pancreas	Pancrea
6	chr1:57385400-57386400	Weak transcription	Fetal Kidney	kidney
7	chr1:57385400-57388000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:57385400-57388600	Enhancers	HepG2	liver
9	chr1:57385600-57387400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:57386000-57387400	Enhancers	NHDF-Ad	bronchial
11	chr1:57386000-57388000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:57386200-57386400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:57386200-57386400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:57386200-57386400	Enhancers	Fetal Stomach	stomach
15	chr1:57386200-57386400	Enhancers	Gastric	stomach
16	chr1:57386200-57387600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:57386200-57387800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:57386200-57387800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:57386200-57387800	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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