Variant report

Variant	rs592451
Chromosome Location	chr1:57370435-57370436
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:15)

rs_ID	r²[population]
rs10489624	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs1360149	0.98[ASN][1000 genomes]
rs2284952	0.99[ASN][1000 genomes]
rs594105	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs607221	0.83[ASN][1000 genomes]
rs618707	0.83[ASN][1000 genomes]
rs621819	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs645846	0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs652785	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs658461	0.84[ASN][1000 genomes]
rs668822	0.81[ASN][1000 genomes]
rs6696924	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6700128	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs679350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs694090	0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.83[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57364200-57375600	Weak transcription	Pancreas	Pancrea
2	chr1:57364600-57376200	Weak transcription	Stomach Mucosa	stomach
3	chr1:57367200-57378400	Enhancers	Liver	Liver
4	chr1:57368000-57373800	Weak transcription	NHDF-Ad	bronchial
5	chr1:57369800-57371200	Weak transcription	HepG2	liver
6	chr1:57370200-57370800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:57370200-57372800	Enhancers	Fetal Intestine Small	intestine
8	chr1:57370400-57370800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:57370400-57371000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:57370400-57371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57370400-57371200	Enhancers	Gastric	stomach
12	chr1:57370400-57372000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:57370400-57372400	Enhancers	Fetal Intestine Large	intestine

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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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