Variant report

Variant	rs62222221
Chromosome Location	chr21:17935194-17935195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11701243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11702768	0.89[ASN][1000 genomes]
rs2000626	0.94[EUR][1000 genomes]
rs2823881	0.94[EUR][1000 genomes]
rs2823884	0.91[EUR][1000 genomes]
rs62222218	0.89[ASN][1000 genomes]
rs62222219	0.89[ASN][1000 genomes]
rs62222220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62222222	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62222223	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62222224	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8126898	0.92[EUR][1000 genomes]
rs977876	0.92[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
2	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr21:17912200-17936000	Weak transcription	Adipose Nuclei	Adipose
4	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:17918000-17935600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:17918600-17935800	Weak transcription	Fetal Stomach	stomach
7	chr21:17919000-17935800	Weak transcription	HSMMtube	muscle
8	chr21:17922800-17935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:17923800-17942000	Weak transcription	Right Ventricle	heart
10	chr21:17924000-17935400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:17924200-17941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
13	chr21:17926200-17935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:17927200-17935800	Weak transcription	Right Atrium	heart
15	chr21:17927200-17942000	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
17	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:17927400-17935800	Weak transcription	HUVEC	blood vessel
19	chr21:17927400-17936000	Weak transcription	Ovary	ovary
20	chr21:17927400-17942000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr21:17929000-17935400	Weak transcription	Liver	Liver
22	chr21:17929000-17935600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:17929000-17935800	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:17929000-17936200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:17929000-17938200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr21:17930200-17942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr21:17932400-17936000	Enhancers	A549	lung
28	chr21:17932800-17939800	Weak transcription	Fetal Brain Female	brain
29	chr21:17934200-17937200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr21:17934400-17935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr21:17934400-17936200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr21:17934400-17936400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:17934400-17937200	Enhancers	Hela-S3	cervix
34	chr21:17934600-17935400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr21:17934600-17935400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr21:17934600-17935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:17934600-17936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:17934600-17936200	Weak transcription	Left Ventricle	heart
39	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr21:17935000-17937000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:17935000-17937200	Enhancers	HSMM	muscle

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