Variant report

Variant	rs16972990
Chromosome Location	chr17:66502522-66502523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2286561	0.81[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2286562	0.80[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4968898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72845684	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72845685	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72847770	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72847779	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66494600-66503600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:66501600-66502600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:66501600-66503200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr17:66501800-66502800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr17:66502000-66505000	Weak transcription	Primary B cells from cord blood	blood
6	chr17:66502000-66507600	Weak transcription	Left Ventricle	heart
7	chr17:66502400-66503400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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