Variant report

Variant	rs73680378
Chromosome Location	chr8:54851802-54851803
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55665326	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56078867	1.00[EUR][1000 genomes]
rs56304962	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57145872	1.00[EUR][1000 genomes]
rs59612810	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60106847	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699716	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61057223	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654796	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7012717	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587687	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587690	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589210	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589216	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589217	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589219	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589226	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589241	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589254	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680352	1.00[EUR][1000 genomes]
rs73680367	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680380	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842748	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842926	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843756	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844270	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846507	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54844600-54853000	Weak transcription	NHLF	lung
2	chr8:54845000-54857600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:54845400-54852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:54847200-54852400	Weak transcription	A549	lung
5	chr8:54847800-54855600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:54850000-54857400	Weak transcription	Brain Anterior Caudate	brain
7	chr8:54850400-54856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:54851000-54856000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:54851200-54852200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:54851200-54852200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:54851200-54853600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:54851200-54854000	ZNF genes & repeats	HMEC	breast
13	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
14	chr8:54851400-54852200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:54851400-54852200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:54851400-54852400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:54851400-54852400	Enhancers	Esophagus	oesophagus
18	chr8:54851400-54853800	ZNF genes & repeats	NHEK	skin
19	chr8:54851400-54855000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:54851600-54852000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:54851600-54854000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:54851600-54854400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:54851600-54855400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:54851800-54853200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:54851800-54853400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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