Variant report

Variant	rs2410205
Chromosome Location	chr21:41417115-41417116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10470191	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2222999	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2410204	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2837381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837393	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2837395	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837398	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837399	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2837401	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837403	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837404	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4239808	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4816672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8131708	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133326	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1833464	chr21:41383329-41419524	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41399200-41424600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr21:41400000-41418000	Weak transcription	Brain Hippocampus Middle	brain
3	chr21:41401600-41421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:41403800-41421600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:41409800-41421200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:41411200-41421000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:41411200-41428800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:41413000-41421200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:41414000-41419800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:41414200-41418200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:41414400-41421600	Weak transcription	Brain Germinal Matrix	brain
12	chr21:41414600-41421200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr21:41414800-41421400	Weak transcription	Fetal Brain Female	brain
14	chr21:41416000-41421200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:41416200-41421800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr21:41417000-41418200	Weak transcription	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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