Variant report

Variant	rs73980794
Chromosome Location	chr17:19920998-19920999
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19920482..19924140-chr17:19925056..19928088,3	K562	blood:
2	chr17:19920482..19923418-chr17:19925056..19926858,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs56178618	1.00[AFR][1000 genomes]
rs57127528	1.00[AMR][1000 genomes]
rs57853272	1.00[AFR][1000 genomes]
rs58334454	1.00[AMR][1000 genomes]
rs58338147	1.00[AMR][1000 genomes]
rs58524683	1.00[AFR][1000 genomes]
rs58748150	1.00[AMR][1000 genomes]
rs59704385	0.97[AFR][1000 genomes]
rs60321315	1.00[AMR][1000 genomes]
rs60740483	1.00[AMR][1000 genomes]
rs7215558	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7221750	1.00[AFR][1000 genomes]
rs7225930	1.00[AMR][1000 genomes]
rs73980725	0.94[AFR][1000 genomes]
rs73980727	0.97[AFR][1000 genomes]
rs73980759	0.97[AFR][1000 genomes]
rs73980761	1.00[AFR][1000 genomes]
rs73980764	1.00[AFR][1000 genomes]
rs73980785	1.00[AFR][1000 genomes]
rs73980787	1.00[AFR][1000 genomes]
rs73980789	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980790	1.00[AMR][1000 genomes]
rs73980791	1.00[AMR][1000 genomes]
rs73980793	1.00[AMR][1000 genomes]
rs73980795	1.00[AMR][1000 genomes]
rs73980797	1.00[AMR][1000 genomes]
rs73981806	1.00[AMR][1000 genomes]
rs73981808	1.00[AMR][1000 genomes]
rs73981810	1.00[AMR][1000 genomes]
rs73984562	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984563	1.00[AMR][1000 genomes]
rs8064839	0.97[AFR][1000 genomes]
rs8066256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8073950	0.94[AFR][1000 genomes]
rs8082216	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers 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 target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19913800-19921200	Weak transcription	Aorta	Aorta
2	chr17:19914200-19925000	Weak transcription	Adipose Nuclei	Adipose
3	chr17:19914600-19922000	Weak transcription	Brain Angular Gyrus	brain
4	chr17:19914600-19928000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:19914600-19938400	Weak transcription	Brain Hippocampus Middle	brain
6	chr17:19918000-19922000	Weak transcription	K562	blood
7	chr17:19918800-19921200	Weak transcription	Ovary	ovary
8	chr17:19920000-19923600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:19920200-19923400	Strong transcription	A549	lung
10	chr17:19920400-19922200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:19920600-19921600	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr17:19920800-19921600	Strong transcription	Brain Anterior Caudate	brain

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