Variant report

Variant	rs1470286
Chromosome Location	chr17:66844411-66844412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10852765	0.84[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs1443264	0.81[EUR][1000 genomes]
rs17744211	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197245	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2218352	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3744493	0.86[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs3744494	0.82[GIH][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap]
rs3744496	0.95[MEX][hapmap];0.86[TSI][hapmap]
rs4147313	0.84[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs4147314	0.84[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs4147993	0.87[MEX][hapmap]
rs4148010	0.80[MEX][hapmap]
rs4968965	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968972	0.82[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs6501792	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7212641	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7212951	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8074769	0.82[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs9893368	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1470286	ACE	cis	cerebellum	SCAN
rs1470286	ICAM2	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66834400-66845800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr17:66841000-66846000	Weak transcription	Fetal Lung	lung
3	chr17:66843200-66845400	Weak transcription	Ovary	ovary
4	chr17:66844000-66844600	Enhancers	Fetal Muscle Leg	muscle
5	chr17:66844000-66844600	Enhancers	Psoas Muscle	Psoas
6	chr17:66844000-66844600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr17:66844400-66845600	Enhancers	HepG2	liver

Quick Search:

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

what's new

Quick links