Variant report

Variant	rs57382045
Chromosome Location	chr17:16851450-16851451
allele	A/G
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:16)

rs_ID	r²[population]
rs11871721	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34562254	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3751984	0.86[EUR][1000 genomes]
rs3751985	0.83[EUR][1000 genomes]
rs4273077	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4500785	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4792798	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4792799	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4792800	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985726	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55672385	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55701306	0.91[ASN][1000 genomes]
rs57166795	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57293260	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58647797	0.82[EUR][1000 genomes]
rs73292853	0.88[EUR][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	chr17:16844200-16852000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:16846400-16851600	Enhancers	Brain Cingulate Gyrus	brain
3	chr17:16846600-16852000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr17:16847800-16851600	Enhancers	Primary B cells from cord blood	blood
5	chr17:16848600-16851800	Enhancers	Brain Substantia Nigra	brain
6	chr17:16849600-16851600	Weak transcription	Spleen	Spleen
7	chr17:16851000-16851800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:16851200-16851600	Enhancers	Brain Anterior Caudate	brain
9	chr17:16851200-16852000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
10	chr17:16851400-16851800	Weak transcription	Brain Hippocampus Middle	brain
11	chr17:16851400-16853000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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