Variant report

Variant	rs461522
Chromosome Location	chr21:40235830-40235831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1893203	1.00[CHB][hapmap]
rs2836713	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7281242	1.00[CHB][hapmap]
rs7281259	1.00[CHB][hapmap]
rs8129453	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv1980777	chr21:40235828-40235831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40226000-40242200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:40229200-40236400	Enhancers	Thymus	Thymus
3	chr21:40229600-40245400	Weak transcription	Left Ventricle	heart
4	chr21:40231600-40236200	Enhancers	Fetal Muscle Trunk	muscle
5	chr21:40232400-40237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:40233600-40245400	Weak transcription	Right Atrium	heart
7	chr21:40235600-40236000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr21:40235600-40236200	Enhancers	Fetal Heart	heart
9	chr21:40235600-40247600	Weak transcription	Spleen	Spleen

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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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