Variant report

Variant	rs16998673
Chromosome Location	chr21:41212635-41212636
allele	A/G
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]
rs2837256	1.00[EUR][1000 genomes]
rs60241529	1.00[EUR][1000 genomes]
rs73369229	1.00[EUR][1000 genomes]
rs73371208	1.00[EUR][1000 genomes]
rs73371212	1.00[EUR][1000 genomes]
rs73371218	1.00[EUR][1000 genomes]
rs73371260	1.00[EUR][1000 genomes]
rs73371261	1.00[EUR][1000 genomes]
rs8127672	1.00[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	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr21:41199000-41219800	Weak transcription	Pancreas	Pancrea
2	chr21:41212200-41213600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:41212400-41213200	Enhancers	Right Ventricle	heart
4	chr21:41212400-41213400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr21:41212400-41213800	Enhancers	Fetal Brain Male	brain
6	chr21:41212600-41213000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr21:41212600-41213000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:41212600-41213200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:41212600-41213400	Enhancers	Fetal Brain Female	brain

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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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