Variant report

Variant	rs2053012
Chromosome Location	chr5:57155223-57155224
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10063478	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1101571	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12657521	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12657522	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16887444	0.89[ASN][1000 genomes]
rs1821209	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28440142	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28489989	0.84[EUR][1000 genomes]
rs58404507	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854040	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs854041	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs854043	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs854044	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs854047	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs854051	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs854055	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9885075	0.84[EUR][1000 genomes];0.89[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:15 , 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	chr5:57152600-57155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:57153800-57155400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:57154000-57157200	Weak transcription	HMEC	breast
6	chr5:57154400-57155600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:57154400-57155600	Enhancers	HSMM	muscle
8	chr5:57154600-57155400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:57154600-57155400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:57154800-57155600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:57154800-57155600	Enhancers	Placenta	Placenta
12	chr5:57155000-57156000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:57155000-57157600	Weak transcription	Fetal Heart	heart
14	chr5:57155200-57156800	Enhancers	NHEK	skin
15	chr5:57155200-57158200	Weak transcription	Fetal Lung	lung

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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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