Variant report

Variant	rs73101373
Chromosome Location	chr20:24483523-24483524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr20:24483371-24483678	HepG2	liver:	n/a	n/a
2	RCOR1	chr20:24482753-24483651	IMR90	lung:	n/a	n/a
3	MAFK	chr20:24483417-24483627	HepG2	liver:	n/a	n/a
4	MAFF	chr20:24483418-24483639	HepG2	liver:	n/a	n/a
5	BATF	chr20:24483385-24483555	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228539	TF binding region

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

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

rs_ID	r²[population]
rs73099561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73101179	1.00[AMR][1000 genomes]
rs73111006	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv833946	chr20:24320375-24490702	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24460800-24483800	Weak transcription	Aorta	Aorta
2	chr20:24471200-24493600	Weak transcription	Fetal Brain Female	brain
3	chr20:24474600-24484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr20:24475600-24495600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:24478800-24483800	Weak transcription	Fetal Lung	lung
6	chr20:24479000-24488400	Weak transcription	Fetal Intestine Small	intestine
7	chr20:24480000-24487000	Enhancers	Brain Hippocampus Middle	brain
8	chr20:24480600-24485800	Enhancers	Brain Substantia Nigra	brain
9	chr20:24481400-24487000	Enhancers	Brain Angular Gyrus	brain
10	chr20:24481600-24504200	Weak transcription	Fetal Brain Male	brain
11	chr20:24482000-24484000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:24482000-24484800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:24482000-24485800	Enhancers	Brain Cingulate Gyrus	brain
14	chr20:24482000-24488600	Enhancers	Left Ventricle	heart
15	chr20:24482400-24485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr20:24482600-24484200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:24482600-24484200	Enhancers	NHLF	lung
18	chr20:24482600-24484600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:24482600-24484600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr20:24482600-24484600	Enhancers	NHDF-Ad	bronchial
21	chr20:24482600-24485200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:24482800-24484200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr20:24482800-24484600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:24483000-24484000	Flanking Active TSS	Fetal Heart	heart
25	chr20:24483000-24484400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr20:24483000-24485000	Weak transcription	Right Ventricle	heart
27	chr20:24483000-24487600	Weak transcription	Right Atrium	heart
28	chr20:24483200-24483800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:24483200-24484000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr20:24483200-24484200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr20:24483200-24484400	Flanking Active TSS	Osteobl	bone
32	chr20:24483200-24484600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr20:24483200-24484600	Enhancers	HSMM	muscle
34	chr20:24483400-24483800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr20:24483400-24483800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr20:24483400-24483800	Enhancers	HSMMtube	muscle
37	chr20:24483400-24483800	Flanking Active TSS	NH-A	brain
38	chr20:24483400-24484000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:24483400-24484200	Enhancers	A549	lung

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