Variant report

Variant	rs17283817
Chromosome Location	chr2:172098069-172098070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12613399	0.98[ASN][1000 genomes]
rs1477181	0.85[ASN][1000 genomes]
rs17218110	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17285541	1.00[YRI][hapmap]
rs1861769	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1861770	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2193455	0.95[ASN][1000 genomes]
rs4667682	0.81[AMR][1000 genomes]
rs62169054	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72625231	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7566096	0.98[ASN][1000 genomes]
rs9653290	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17283817	SP3	cis	cerebellum	SCAN
rs17283817	HAT1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172094200-172100800	Weak transcription	Placenta	Placenta
2	chr2:172095800-172100600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:172095800-172100800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:172096000-172104000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:172096800-172100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:172098000-172098800	Enhancers	NHEK	skin

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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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