Variant report

Variant	rs73680352
Chromosome Location	chr8:54805573-54805574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54805147..54807084-chr8:54817930..54819758,2	K562	blood:
2	chr8:54794718..54796302-chr8:54804147..54805948,2	K562	blood:
3	chr8:54805478..54808027-chr8:54814864..54817596,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55665326	1.00[EUR][1000 genomes]
rs56078867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56304962	1.00[EUR][1000 genomes]
rs57145872	1.00[EUR][1000 genomes]
rs59612810	1.00[EUR][1000 genomes]
rs60106847	1.00[EUR][1000 genomes]
rs60699716	1.00[EUR][1000 genomes]
rs61057223	1.00[EUR][1000 genomes]
rs61524906	1.00[EUR][1000 genomes]
rs61654796	1.00[EUR][1000 genomes]
rs7012717	1.00[EUR][1000 genomes]
rs73587687	1.00[EUR][1000 genomes]
rs73587690	1.00[EUR][1000 genomes]
rs73589210	1.00[EUR][1000 genomes]
rs73589216	1.00[EUR][1000 genomes]
rs73589217	1.00[EUR][1000 genomes]
rs73589219	1.00[EUR][1000 genomes]
rs73589222	1.00[EUR][1000 genomes]
rs73589226	1.00[EUR][1000 genomes]
rs73589241	1.00[EUR][1000 genomes]
rs73589246	1.00[EUR][1000 genomes]
rs73589254	1.00[EUR][1000 genomes]
rs73680367	1.00[EUR][1000 genomes]
rs73680378	1.00[EUR][1000 genomes]
rs73680380	1.00[EUR][1000 genomes]
rs7842748	1.00[EUR][1000 genomes]
rs7842926	1.00[EUR][1000 genomes]
rs7843756	1.00[EUR][1000 genomes]
rs7844270	1.00[EUR][1000 genomes]
rs7846507	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54798400-54814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:54799400-54812200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:54799800-54812400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:54800400-54807600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:54800400-54810600	Weak transcription	HMEC	breast
6	chr8:54803400-54806000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:54803400-54817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:54803600-54807200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:54803600-54807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:54803800-54806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:54803800-54806800	Weak transcription	NHEK	skin
12	chr8:54803800-54809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:54803800-54811600	Weak transcription	A549	lung
14	chr8:54804000-54809800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:54804000-54816000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:54804200-54806000	Weak transcription	NHLF	lung
17	chr8:54804200-54808800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:54804400-54806000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:54805400-54806000	Active TSS	GM12878-XiMat	blood

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