Variant report

Variant	rs73369498
Chromosome Location	chr21:17944412-17944413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1556291	0.87[ASN][1000 genomes]
rs2823864	0.80[ASN][1000 genomes]
rs2823867	1.00[EUR][1000 genomes]
rs2823871	1.00[EUR][1000 genomes]
rs2823874	1.00[EUR][1000 genomes]
rs2823875	1.00[EUR][1000 genomes]
rs2823890	0.90[ASN][1000 genomes]
rs2823891	0.95[ASN][1000 genomes]
rs4816732	1.00[EUR][1000 genomes]
rs4818275	1.00[EUR][1000 genomes]
rs58962592	1.00[EUR][1000 genomes]
rs60906127	1.00[EUR][1000 genomes]
rs7279589	1.00[EUR][1000 genomes]
rs7282899	1.00[EUR][1000 genomes]
rs73363505	1.00[EUR][1000 genomes]
rs73363512	1.00[EUR][1000 genomes]
rs73363533	1.00[EUR][1000 genomes]
rs73363538	1.00[EUR][1000 genomes]
rs73363542	1.00[EUR][1000 genomes]
rs73369769	1.00[EUR][1000 genomes]
rs73369789	1.00[EUR][1000 genomes]
rs73381666	1.00[EUR][1000 genomes]
rs73381670	1.00[EUR][1000 genomes]
rs73381672	1.00[EUR][1000 genomes]
rs8131578	1.00[EUR][1000 genomes]
rs977875	1.00[ASN][1000 genomes]
rs9980715	1.00[EUR][1000 genomes]
rs9981734	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	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
3	esv2525221	chr21:17943274-17945331	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv2219573	chr21:17943466-17944785	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a
5	esv18190	chr21:17943609-17944569	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
3	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:17936400-17950400	Weak transcription	Adipose Nuclei	Adipose
6	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
9	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:17941200-17947000	Enhancers	HSMM	muscle
11	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
12	chr21:17941800-17946600	Enhancers	NH-A	brain
13	chr21:17942000-17944600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:17942200-17945800	Weak transcription	Right Ventricle	heart
15	chr21:17942200-17950600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:17942400-17945600	Weak transcription	NHDF-Ad	bronchial
17	chr21:17942800-17945000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:17943000-17950400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:17943000-17951400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr21:17943200-17944800	Flanking Active TSS	Osteobl	bone
21	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
22	chr21:17943400-17944600	Enhancers	HSMMtube	muscle
23	chr21:17943600-17945600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr21:17943600-17945800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr21:17943600-17946000	Weak transcription	Psoas Muscle	Psoas
26	chr21:17943600-17946800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:17943800-17945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:17944000-17944800	Enhancers	A549	lung
29	chr21:17944000-17945400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr21:17944000-17945600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:17944200-17945000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:17944200-17945400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:17944200-17945800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:17944200-17945800	Weak transcription	HMEC	breast
35	chr21:17944400-17945400	Weak transcription	HUVEC	blood vessel
36	chr21:17944400-17946600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:17944400-17946600	Enhancers	Muscle Satellite Cultured Cells	--

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