Variant report

Variant	rs73980240
Chromosome Location	chr17:16858459-16858460
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10468462	0.86[ASN][1000 genomes]
rs10468463	0.84[ASN][1000 genomes]
rs11078360	0.97[AFR][1000 genomes]
rs11078361	0.97[AFR][1000 genomes]
rs12051726	0.93[AFR][1000 genomes]
rs12051889	0.93[AFR][1000 genomes]
rs12051890	0.93[AFR][1000 genomes]
rs12051892	0.93[AFR][1000 genomes]
rs12051899	0.97[AFR][1000 genomes]
rs12051900	0.97[AFR][1000 genomes]
rs12150243	0.95[AFR][1000 genomes]
rs12325872	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870066	0.93[AFR][1000 genomes]
rs35678976	0.97[AFR][1000 genomes]
rs4985783	0.82[ASN][1000 genomes]
rs56369903	0.94[ASN][1000 genomes]
rs66479858	0.93[AFR][1000 genomes]
rs66847673	0.93[AFR][1000 genomes]
rs67001256	0.93[AFR][1000 genomes]
rs7214221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216399	0.82[ASN][1000 genomes]
rs7218682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222430	0.84[ASN][1000 genomes]
rs73980239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082017	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv833379	chr17:16683585-16859539	Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1055688	chr17:16800788-16868860	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907726	chr17:16821204-16875636	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16853000-16858800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:16856400-16860400	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr17:16857000-16858600	Enhancers	Brain Hippocampus Middle	brain
4	chr17:16857400-16859200	Enhancers	Dnd41	blood
5	chr17:16857400-16859200	Genic enhancers	GM12878-XiMat	blood
6	chr17:16857600-16858800	Enhancers	Brain Substantia Nigra	brain
7	chr17:16858000-16858800	Weak transcription	Primary B cells from cord blood	blood
8	chr17:16858200-16858800	Weak transcription	Brain Anterior Caudate	brain
9	chr17:16858200-16859000	Enhancers	Fetal Intestine Small	intestine
10	chr17:16858200-16859000	Weak transcription	Spleen	Spleen
11	chr17:16858400-16858800	Weak transcription	Brain Cingulate Gyrus	brain

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