Variant report

Variant	rs73893743
Chromosome Location	chr21:17913503-17913504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10470096	1.00[EUR][1000 genomes]
rs10470198	1.00[EUR][1000 genomes]
rs10470199	1.00[EUR][1000 genomes]
rs13433398	1.00[EUR][1000 genomes]
rs13433444	1.00[EUR][1000 genomes]
rs28415058	1.00[EUR][1000 genomes]
rs28608983	1.00[EUR][1000 genomes]
rs28858813	1.00[EUR][1000 genomes]
rs57454141	1.00[EUR][1000 genomes]
rs58225448	1.00[EUR][1000 genomes]
rs58236716	1.00[EUR][1000 genomes]
rs59574854	1.00[EUR][1000 genomes]
rs59656923	1.00[EUR][1000 genomes]
rs7280831	1.00[EUR][1000 genomes]
rs73891588	1.00[EUR][1000 genomes]
rs73891591	1.00[EUR][1000 genomes]
rs73891592	1.00[EUR][1000 genomes]
rs73893713	1.00[EUR][1000 genomes]
rs9305766	1.00[EUR][1000 genomes]
rs9305767	1.00[EUR][1000 genomes]
rs9305768	1.00[EUR][1000 genomes]
rs9305769	1.00[EUR][1000 genomes]
rs9974519	1.00[EUR][1000 genomes]
rs9975640	1.00[EUR][1000 genomes]
rs9976077	1.00[EUR][1000 genomes]
rs9978828	1.00[EUR][1000 genomes]
rs9979222	1.00[EUR][1000 genomes]
rs9979904	1.00[EUR][1000 genomes]
rs9981465	1.00[EUR][1000 genomes]
rs9981699	1.00[EUR][1000 genomes]
rs9983223	1.00[EUR][1000 genomes]
rs9983295	1.00[EUR][1000 genomes]
rs9983466	1.00[EUR][1000 genomes]
rs9984183	1.00[EUR][1000 genomes]
rs9984263	1.00[EUR][1000 genomes]
rs9984788	1.00[EUR][1000 genomes]
rs9985004	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17904600-17914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:17908800-17918400	Weak transcription	Fetal Stomach	stomach
3	chr21:17909600-17926800	Weak transcription	Fetal Kidney	kidney
4	chr21:17909800-17926600	Weak transcription	Fetal Heart	heart
5	chr21:17909800-17927000	Weak transcription	Left Ventricle	heart
6	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
7	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr21:17910600-17913600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:17910600-17923600	Weak transcription	HSMM	muscle
10	chr21:17910600-17928600	Weak transcription	Liver	Liver
11	chr21:17910600-17934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr21:17911000-17920000	Weak transcription	NH-A	brain
13	chr21:17911000-17923600	Weak transcription	Osteobl	bone
14	chr21:17911200-17913600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:17911200-17916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:17911600-17914200	Weak transcription	Psoas Muscle	Psoas
17	chr21:17911800-17915600	Weak transcription	Ovary	ovary
18	chr21:17912000-17914200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:17912200-17936000	Weak transcription	Adipose Nuclei	Adipose
20	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:17912400-17915600	Weak transcription	Fetal Brain Female	brain
22	chr21:17912400-17926400	Weak transcription	Brain Germinal Matrix	brain
23	chr21:17912400-17934400	Weak transcription	Fetal Brain Male	brain
24	chr21:17912800-17913600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:17912800-17913800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr21:17912800-17915200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr21:17912800-17915800	Weak transcription	Fetal Muscle Leg	muscle
28	chr21:17912800-17923600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:17912800-17928400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr21:17913000-17916000	Weak transcription	Fetal Lung	lung
31	chr21:17913000-17923400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:17913400-17914000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:17913400-17914000	Enhancers	Hela-S3	cervix
34	chr21:17913400-17914400	Enhancers	A549	lung
35	chr21:17913400-17914400	Enhancers	HUVEC	blood vessel

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