Variant report

Variant	rs2284952
Chromosome Location	chr1:57369875-57369876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10489624	0.82[ASN][1000 genomes]
rs1360149	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs592451	0.99[ASN][1000 genomes]
rs594105	0.82[ASN][1000 genomes]
rs607221	0.82[ASN][1000 genomes]
rs618707	0.82[ASN][1000 genomes]
rs621819	0.81[ASN][1000 genomes]
rs645846	0.82[ASN][1000 genomes]
rs652785	0.82[ASN][1000 genomes]
rs658461	0.84[ASN][1000 genomes]
rs668822	0.80[ASN][1000 genomes]
rs6696924	0.94[ASN][1000 genomes]
rs6700128	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679350	0.95[ASN][1000 genomes]
rs694090	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3425111	chr1:57369755-57370013	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57364200-57375600	Weak transcription	Pancreas	Pancrea
2	chr1:57364600-57370400	Weak transcription	Gastric	stomach
3	chr1:57364600-57376200	Weak transcription	Stomach Mucosa	stomach
4	chr1:57367200-57378400	Enhancers	Liver	Liver
5	chr1:57368000-57370400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:57368000-57373800	Weak transcription	NHDF-Ad	bronchial
7	chr1:57368200-57370200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:57368600-57370400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:57369000-57370400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:57369800-57370200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:57369800-57371200	Weak transcription	HepG2	liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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