Variant report

Variant	rs1518039
Chromosome Location	chr1:223443646-223443647
allele	A/G
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:14)

rs_ID	r²[population]
rs1400962	0.91[ASN][1000 genomes]
rs1713221	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17517806	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1772270	0.91[ASN][1000 genomes]
rs1772271	0.91[ASN][1000 genomes]
rs1772277	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2138967	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2138968	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35360808	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35636122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35737777	0.93[ASN][1000 genomes]
rs41371046	0.87[EUR][1000 genomes]
rs712856	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9442041	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr1:223433200-223444600	Weak transcription	Esophagus	oesophagus
2	chr1:223440400-223446000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:223440800-223465600	Weak transcription	Ovary	ovary
4	chr1:223441200-223445600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:223442000-223444000	Enhancers	Fetal Heart	heart
6	chr1:223442200-223445400	Enhancers	Liver	Liver
7	chr1:223442400-223443800	Enhancers	Stomach Mucosa	stomach
8	chr1:223442600-223462200	Weak transcription	Primary T cells from cord blood	blood
9	chr1:223442800-223443800	Enhancers	Gastric	stomach
10	chr1:223443000-223444600	Weak transcription	Pancreas	Pancrea
11	chr1:223443000-223446800	Weak transcription	K562	blood
12	chr1:223443400-223444400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:223443600-223443800	Enhancers	Rectal Mucosa Donor 31	rectum

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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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