Variant report

Variant	rs463780
Chromosome Location	chr21:40010505-40010506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs460439	0.81[ASN][1000 genomes]
rs460667	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs462006	0.81[ASN][1000 genomes]
rs462365	1.00[EUR][1000 genomes]
rs463166	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs463763	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs466939	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	nsv1065541	chr21:40009959-40024976	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1057719	chr21:40009959-40025433	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1058663	chr21:40009959-40031681	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40003800-40014400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:40008800-40010800	Weak transcription	Aorta	Aorta
3	chr21:40008800-40011600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:40009200-40014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr21:40010400-40010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:40010400-40011400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:40010400-40011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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