Variant report

Variant	rs7216643
Chromosome Location	chr17:66827491-66827492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10512519	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11655986	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11656942	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12451366	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12601591	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12602875	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4148011	0.82[EUR][1000 genomes]
rs56079215	0.88[EUR][1000 genomes]
rs58601251	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6501769	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6501788	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7215620	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7217691	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7219718	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8067199	0.81[ASN][1000 genomes]
rs8071366	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8071389	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8079580	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9913071	0.81[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66817600-66828800	Weak transcription	Right Atrium	heart
2	chr17:66826600-66829200	Enhancers	Fetal Lung	lung
3	chr17:66826600-66830000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr17:66826800-66828600	Weak transcription	Ovary	ovary
5	chr17:66826800-66831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:66827000-66830800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:66827400-66829000	Enhancers	Left Ventricle	heart
8	chr17:66827400-66830200	Enhancers	Adipose Nuclei	Adipose

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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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