Variant report

Variant	rs59560971
Chromosome Location	chr1:213110022-213110023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11804466	1.00[ASN][1000 genomes]
rs11807270	1.00[ASN][1000 genomes]
rs11808834	1.00[ASN][1000 genomes]
rs11810592	1.00[ASN][1000 genomes]
rs55675185	1.00[ASN][1000 genomes]
rs56004152	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57768681	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58153233	1.00[ASN][1000 genomes]
rs58318035	1.00[ASN][1000 genomes]
rs59454401	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59694884	1.00[ASN][1000 genomes]
rs60610968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6684088	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6699046	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140524	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7518378	1.00[ASN][1000 genomes]
rs7533253	1.00[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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213102400-213115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:213102800-213116000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:213103000-213110600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:213105200-213111400	Weak transcription	GM12878-XiMat	blood
5	chr1:213107800-213119400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:213108200-213111200	Enhancers	HepG2	liver
7	chr1:213109800-213110200	Enhancers	Fetal Intestine Large	intestine
8	chr1:213109800-213112400	Weak transcription	K562	blood

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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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