Variant report

Variant	rs233577
Chromosome Location	chr21:28342205-28342206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs151058	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs229048	0.85[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs233598	0.85[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs233599	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs233894	0.90[CEU][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs2830581	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs2830585	0.90[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2830586	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs439517	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73187832	0.81[EUR][1000 genomes]

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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28340400-28349600	Weak transcription	HSMM	muscle
2	chr21:28340600-28342400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:28340600-28345400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:28340800-28345600	Weak transcription	Fetal Kidney	kidney
5	chr21:28341400-28345400	Weak transcription	Ovary	ovary
6	chr21:28341400-28345600	Weak transcription	Adipose Nuclei	Adipose
7	chr21:28342000-28343000	Enhancers	NHDF-Ad	bronchial
8	chr21:28342200-28342400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:28342200-28342400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:28342200-28342400	Enhancers	HSMMtube	muscle
11	chr21:28342200-28342600	Enhancers	Osteobl	bone
12	chr21:28342200-28342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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