Variant report

Variant	rs12627717
Chromosome Location	chr21:15427378-15427379
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11087879	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1810864	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1970691	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1977962	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2155965	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298673	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6650825	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72629095	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72629096	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9636733	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv962721	chr21:15407136-15431964	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv1056787	chr21:15407504-15530291	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:15402600-15442400	Weak transcription	Dnd41	blood
3	chr21:15417000-15429600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:15423000-15442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:15423600-15443000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:15425800-15443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:15427000-15427400	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr21:15427000-15429400	Enhancers	Pancreas	Pancrea
10	chr21:15427000-15431400	Enhancers	Esophagus	oesophagus
11	chr21:15427000-15432000	ZNF genes & repeats	Fetal Stomach	stomach
12	chr21:15427000-15433000	ZNF genes & repeats	Fetal Brain Female	brain
13	chr21:15427200-15427400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:15427200-15427800	Weak transcription	Spleen	Spleen
15	chr21:15427200-15428400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:15427200-15428400	Enhancers	Right Ventricle	heart
17	chr21:15427200-15430200	Enhancers	Rectal Smooth Muscle	rectum
18	chr21:15427200-15431200	Enhancers	Hela-S3	cervix
19	chr21:15427200-15436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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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