Variant report

Variant	rs73680381
Chromosome Location	chr8:54852451-54852452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73680309	1.00[AMR][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:27 , 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	chr8:54847800-54855600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:54850000-54857400	Weak transcription	Brain Anterior Caudate	brain
5	chr8:54850400-54856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:54851000-54856000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:54851200-54853600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:54851200-54854000	ZNF genes & repeats	HMEC	breast
9	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
10	chr8:54851400-54853800	ZNF genes & repeats	NHEK	skin
11	chr8:54851400-54855000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:54851600-54854000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:54851600-54854400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:54851600-54855400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:54851800-54853200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:54851800-54853400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:54852000-54853400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:54852000-54853800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:54852200-54852600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:54852200-54853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:54852200-54853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:54852200-54853800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
24	chr8:54852400-54853200	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:54852400-54854000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:54852400-54854000	Strong transcription	A549	lung
27	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus

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