Variant report

Variant	rs73371330
Chromosome Location	chr21:17952694-17952695
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17000140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000782	1.00[ASN][1000 genomes]
rs2186869	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2823887	1.00[ASN][1000 genomes]
rs2823889	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28488116	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28578155	1.00[EUR][1000 genomes]
rs3803998	1.00[ASN][1000 genomes]
rs58627197	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283757	1.00[ASN][1000 genomes]
rs73363543	1.00[ASN][1000 genomes]
rs73363546	0.92[ASN][1000 genomes]
rs73371307	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8130291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974715	1.00[EUR][1000 genomes]
rs9980357	1.00[ASN][1000 genomes]
rs9980758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982294	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984854	1.00[EUR][1000 genomes];1.00[ASN][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
5	chr21:17946200-17955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr21:17946400-17956000	Weak transcription	A549	lung
7	chr21:17946600-17956000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr21:17950200-17954200	Enhancers	Fetal Lung	lung
9	chr21:17950400-17953600	Enhancers	Adipose Nuclei	Adipose
10	chr21:17950400-17953800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr21:17950400-17959000	Weak transcription	Fetal Brain Male	brain
12	chr21:17951000-17952800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:17951000-17953600	Enhancers	Colon Smooth Muscle	Colon
14	chr21:17951200-17953600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:17951400-17952800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:17951400-17953400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:17951400-17953400	Enhancers	Rectal Smooth Muscle	rectum
18	chr21:17951600-17953000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:17951600-17953000	Weak transcription	Fetal Stomach	stomach
20	chr21:17951600-17953400	Enhancers	Brain Angular Gyrus	brain
21	chr21:17951600-17953400	Enhancers	HSMM	muscle
22	chr21:17952000-17952800	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr21:17952000-17959200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:17952200-17953200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr21:17952200-17953200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr21:17952200-17953400	Enhancers	Brain Substantia Nigra	brain
27	chr21:17952200-17955800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:17952200-17958800	Weak transcription	HSMMtube	muscle
29	chr21:17952200-17959000	Weak transcription	NHDF-Ad	bronchial
30	chr21:17952200-17959200	Weak transcription	Aorta	Aorta
31	chr21:17952200-17959400	Weak transcription	Fetal Muscle Leg	muscle
32	chr21:17952200-17959400	Weak transcription	Left Ventricle	heart
33	chr21:17952200-17959400	Weak transcription	Ovary	ovary
34	chr21:17952200-17959400	Weak transcription	NH-A	brain
35	chr21:17952400-17953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr21:17952400-17953200	Enhancers	Brain Anterior Caudate	brain
37	chr21:17952400-17953600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:17952400-17953600	Enhancers	Fetal Kidney	kidney
39	chr21:17952400-17955600	Weak transcription	Right Atrium	heart
40	chr21:17952400-17955800	Weak transcription	Osteobl	bone
41	chr21:17952400-17958600	Weak transcription	Fetal Brain Female	brain
42	chr21:17952600-17952800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:17952600-17952800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr21:17952600-17953000	Enhancers	Liver	Liver

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