Variant report

Variant	rs56221026
Chromosome Location	chr5:57156994-57156995
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12659861	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1816392	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2408853	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35310736	0.96[ASN][1000 genomes]
rs4376227	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4700232	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4700234	0.97[ASN][1000 genomes]
rs4700235	0.97[ASN][1000 genomes]
rs57813032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60584920	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9968558	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57151200-57158200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:57151400-57160000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:57154000-57157200	Weak transcription	HMEC	breast
4	chr5:57155000-57157600	Weak transcription	Fetal Heart	heart
5	chr5:57155200-57158200	Weak transcription	Fetal Lung	lung
6	chr5:57155400-57158400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:57155600-57157600	Weak transcription	HSMM	muscle
8	chr5:57155600-57158200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:57155600-57159200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:57156000-57160000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:57156200-57159800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:57156400-57160600	Enhancers	Placenta	Placenta
13	chr5:57156800-57158600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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