Variant report

Variant	rs1974415
Chromosome Location	chr21:28341156-28341157
allele	A/C
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:6)

rs_ID	r²[population]
rs1039144	0.96[ASN][1000 genomes]
rs1497273	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1497274	0.87[ASN][1000 genomes]
rs2830598	0.87[ASN][1000 genomes]
rs2830599	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2830600	0.87[ASN][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28340400-28341200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr21:28340400-28349600	Weak transcription	HSMM	muscle
3	chr21:28340600-28341200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr21:28340600-28341200	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr21:28340600-28341600	Enhancers	NHDF-Ad	bronchial
6	chr21:28340600-28342400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:28340600-28345400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:28340800-28341200	Enhancers	HSMMtube	muscle
9	chr21:28340800-28341400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr21:28340800-28341400	Enhancers	Adipose Nuclei	Adipose
11	chr21:28340800-28342200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:28340800-28342200	Weak transcription	Osteobl	bone
13	chr21:28340800-28345600	Weak transcription	Fetal Kidney	kidney
14	chr21:28341000-28341200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr21:28341000-28341400	Enhancers	Ovary	ovary

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

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