Variant report

Variant	rs9974086
Chromosome Location	chr21:46480296-46480297
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1556315	1.00[AMR][1000 genomes]
rs9976482	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9981803	1.00[AMR][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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 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	chr21:46471600-46484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
3	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
4	chr21:46476600-46480400	Weak transcription	Fetal Lung	lung
5	chr21:46478200-46484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:46479400-46483800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46480000-46480400	Enhancers	Fetal Muscle Trunk	muscle
8	chr21:46480000-46480400	Enhancers	Stomach Mucosa	stomach
9	chr21:46480000-46480600	Enhancers	GM12878-XiMat	blood
10	chr21:46480000-46481200	Enhancers	Fetal Thymus	thymus
11	chr21:46480000-46481600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:46480200-46480600	Enhancers	Lung	lung
13	chr21:46480200-46481000	Enhancers	Fetal Muscle Leg	muscle
14	chr21:46480200-46481400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:46480200-46481600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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