Variant report

Variant	rs17510469
Chromosome Location	chr1:90658589-90658590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1004440	1.00[ASN][1000 genomes]
rs12723369	1.00[ASN][1000 genomes]
rs12724648	1.00[ASN][1000 genomes]
rs12732838	1.00[ASN][1000 genomes]
rs12744478	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752313	1.00[ASN][1000 genomes]
rs12754978	1.00[ASN][1000 genomes]
rs17130996	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34919097	1.00[ASN][1000 genomes]
rs71666242	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71666243	1.00[ASN][1000 genomes]
rs71666253	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830570	chr1:90525215-90685526	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1011555	chr1:90529122-90663382	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv535028	chr1:90529122-90663382	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90657600-90658600	Enhancers	Fetal Brain Female	brain
2	chr1:90657800-90658800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:90658000-90658600	Enhancers	Brain Germinal Matrix	brain
4	chr1:90658000-90658800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:90658000-90659000	Enhancers	Fetal Brain Male	brain
6	chr1:90658200-90658600	Flanking Active TSS	Fetal Heart	heart

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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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