Variant report

Variant	rs4294458
Chromosome Location	chr1:56325460-56325461
allele	G/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:15)

rs_ID	r²[population]
rs10158252	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789008	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12034199	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112883	0.89[ASN][1000 genomes]
rs3922837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244651	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517390	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634949	0.91[ASN][1000 genomes]
rs4927272	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588574	0.91[ASN][1000 genomes]
rs6588576	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660791	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700187	0.94[ASN][1000 genomes]
rs7534001	0.97[ASN][1000 genomes]
rs9326038	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56320800-56325600	Weak transcription	NHDF-Ad	bronchial
2	chr1:56321000-56325600	Weak transcription	Fetal Lung	lung
3	chr1:56321600-56325800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:56322400-56333400	Weak transcription	Psoas Muscle	Psoas
5	chr1:56323000-56325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:56323200-56326200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:56324600-56327200	Enhancers	Fetal Intestine Large	intestine
8	chr1:56324600-56327600	Enhancers	Fetal Intestine Small	intestine
9	chr1:56325200-56326600	Enhancers	Fetal Stomach	stomach
10	chr1:56325400-56325600	Enhancers	Left Ventricle	heart
11	chr1:56325400-56326000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:56325400-56326000	Enhancers	Placenta	Placenta
13	chr1:56325400-56326600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:56325400-56326600	Enhancers	Adipose Nuclei	Adipose
15	chr1:56325400-56326600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:56325400-56327000	Enhancers	Fetal Muscle Leg	muscle
17	chr1:56325400-56327400	Enhancers	Fetal Heart	heart
18	chr1:56325400-56328400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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