Variant report

Variant	rs73614268
Chromosome Location	chr8:19944554-19944555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28605708	0.88[AFR][1000 genomes]
rs28632117	1.00[AMR][1000 genomes]
rs58394366	1.00[AMR][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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19937400-19945800	Weak transcription	Fetal Lung	lung
2	chr8:19939600-19946800	Enhancers	Placenta	Placenta
3	chr8:19942000-19945400	Weak transcription	Gastric	stomach
4	chr8:19942000-19946000	Weak transcription	Right Ventricle	heart
5	chr8:19942000-19946200	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:19942000-19946200	Weak transcription	Right Atrium	heart
7	chr8:19942000-19947400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:19943600-19944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:19943600-19944800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:19943600-19945000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:19943600-19945400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:19943800-19944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:19943800-19944600	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:19943800-19944600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:19943800-19944600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:19943800-19944800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:19944000-19944600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr8:19944000-19945200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:19944200-19944600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:19944200-19944600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr8:19944200-19944600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:19944200-19944600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:19944200-19944600	Enhancers	HepG2	liver
24	chr8:19944200-19944600	Enhancers	NHLF	lung
25	chr8:19944200-19944800	Enhancers	Left Ventricle	heart
26	chr8:19944200-19945000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:19944200-19945000	Flanking Active TSS	Hela-S3	cervix
28	chr8:19944200-19945600	Enhancers	Adipose Nuclei	Adipose
29	chr8:19944400-19944600	Enhancers	Spleen	Spleen

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