Variant report

Variant	rs2836993
Chromosome Location	chr21:40736473-40736474
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11558767	1.00[ASW][hapmap];1.00[ASN][1000 genomes]
rs13052640	1.00[ASN][1000 genomes]
rs2836939	1.00[ASN][1000 genomes]
rs2836989	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836991	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34160989	1.00[ASN][1000 genomes]
rs34304022	1.00[ASN][1000 genomes]
rs55737607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55997244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222852	1.00[ASN][1000 genomes]
rs73361793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv2421785	chr21:40734723-40737012	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv442497	chr21:40734922-40737012	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 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	chr21:40734000-40736600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr21:40734000-40736800	Enhancers	Primary hematopoietic stem cells	blood
3	chr21:40734000-40737400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:40734400-40737800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:40734800-40736600	Enhancers	K562	blood
6	chr21:40734800-40738200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr21:40735600-40737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:40735800-40736800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr21:40736000-40737000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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