Variant report

Variant	rs239667
Chromosome Location	chr21:28780382-28780383
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:9)

rs_ID	r²[population]
rs183006	0.92[EUR][1000 genomes]
rs239659	0.92[EUR][1000 genomes]
rs239661	0.92[EUR][1000 genomes]
rs239662	0.92[EUR][1000 genomes]
rs239663	0.91[EUR][1000 genomes]
rs239664	0.92[EUR][1000 genomes]
rs239666	0.92[EUR][1000 genomes]
rs239674	1.00[EUR][1000 genomes]
rs239678	0.89[EUR][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	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
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28772600-28786200	Weak transcription	Fetal Heart	heart
2	chr21:28777400-28781400	Weak transcription	Fetal Muscle Leg	muscle
3	chr21:28777600-28781000	Enhancers	Fetal Stomach	stomach
4	chr21:28779000-28781400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:28779000-28786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:28779800-28781000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:28779800-28785600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr21:28780000-28781000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28780000-28781200	Weak transcription	Ovary	ovary
10	chr21:28780000-28781200	Weak transcription	NHDF-Ad	bronchial
11	chr21:28780000-28782600	Enhancers	Fetal Lung	lung
12	chr21:28780000-28785400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr21:28780000-28789000	Weak transcription	Spleen	Spleen
14	chr21:28780000-28789200	Weak transcription	Gastric	stomach

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Input of quick search could be:

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

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