Variant report

Variant	rs7364079
Chromosome Location	chr21:15439452-15439453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12483548	0.83[EUR][1000 genomes]
rs13046630	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13048438	0.84[EUR][1000 genomes]
rs28385573	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34338538	0.86[EUR][1000 genomes]
rs35178815	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35827720	0.83[EUR][1000 genomes]
rs60821881	0.83[EUR][1000 genomes]
rs6516571	0.81[EUR][1000 genomes]
rs71315759	0.82[EUR][1000 genomes]
rs7283986	1.00[ASN][1000 genomes]
rs8129930	0.85[EUR][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	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
8	nsv979524	chr21:15431964-15441809	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7364079	ANKRD20A18P	cis	Esophagus Mucosa	GTEx

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	chr21:15423000-15442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:15423600-15443000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:15425800-15443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
8	chr21:15430400-15442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:15433000-15442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:15433000-15442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:15436400-15442400	Weak transcription	Thymus	Thymus
12	chr21:15436800-15441200	Weak transcription	Gastric	stomach
13	chr21:15437000-15442000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:15437000-15442200	Weak transcription	Pancreas	Pancrea
15	chr21:15437000-15442400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:15437000-15442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:15437000-15443200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:15437000-15448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:15438400-15442400	Weak transcription	Esophagus	oesophagus

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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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